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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
HDAC7	51564	broad.mit.edu	37	12	48189006	48189006	+	Silent	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr12:48189006G>A	uc010slo.2	-	10	1440	c.1245C>T	c.(1243-1245)ccC>ccT	p.P415P	HDAC7_uc001rqe.3_5'Flank|HDAC7_uc001rqj.4_Silent_p.P378P|HDAC7_uc001rqk.4_Silent_p.P398P	NM_015401	NP_056216	Q8WUI4	HDAC7_HUMAN	Homo sapiens histone deacetylase 7 (HDAC7), transcript variant 1, mRNA.	376	Transcription repression 2 (By similarity).				negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|protein kinase C binding|repressing transcription factor binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		GCTCCAGGCGGGGCTGCATGG	0.647000														56			37		0	0	0.000509022	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204412635	204412635	+	Silent	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr1:204412635C>T	uc001haw.3	-	19	3437	c.2958G>A	c.(2956-2958)ctG>ctA	p.L986L	PIK3C2B_uc010pqv.2_Silent_p.L958L	NM_002646	NP_002637	O00750	P3C2B_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, beta polypeptide (PIK3C2B), mRNA.	986					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			ACTCTTCTCTCAGCCCCTTGC	0.592000														55			71		0	0	0.000781405	0	0
LOC341056	341056	broad.mit.edu	37	11	122888438	122888438	+	RNA	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr11:122888438C>T	uc010rzt.2	+	0		c.165C>T								Homo sapiens SUMO1 activating enzyme subunit 1 pseudogene (LOC341056), non-coding RNA.																		ACTGGAGGCCCCGAAATGGCT	0.607000														26			18		0	0	0.000175454	0	0
PIGV	55650	broad.mit.edu	37	1	27121634	27121634	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr1:27121634C>T	uc001bmz.3	+	2	1472	c.1109C>T	c.(1108-1110)cCc>cTc	p.P370L	PIGV_uc001bna.3_Missense_Mutation_p.P370L|PIGV_uc010ofg.2_Missense_Mutation_p.P135L	NM_017837	NP_060307	Q9NUD9	PIGV_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class V (PIGV), transcript variant 2, mRNA.	370					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	glycolipid mannosyltransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	14		all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		CTAGAGAAGCCCGATCTTGGA	0.542000														46			74		0	0	0.000781405	0	0
CXorf48	54967	broad.mit.edu	37	X	134292130	134292130	+	Silent	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chrX:134292130C>T	uc004eyk.1	-	3	1187	c.531G>A	c.(529-531)acG>acA	p.T177T	CXorf48_uc004eyl.1_Silent_p.T177T	NM_001031705	NP_001026875	Q8WUE5	CX048_HUMAN	Homo sapiens chromosome X open reading frame 48 (CXorf48), transcript variant 1, mRNA.	177										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5	Acute lymphoblastic leukemia(192;0.000127)					TTACCTCTTCCGTATGAATAC	0.433000														7			17		0	0	0.000566183	0	0
SETD1A	9739	broad.mit.edu	37	16	30977592	30977592	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr16:30977592T>A	uc002ead.1	+	7	3076	c.2390T>A	c.(2389-2391)aTg>aAg	p.M797K		NM_014712	NP_055527	O15047	SET1A_HUMAN	Homo sapiens SET domain containing 1A (SETD1A), mRNA.	797					regulation of transcription, DNA-dependent|transcription, DNA-dependent	Set1C/COMPASS complex|chromosome|nuclear speck	RNA binding|histone-lysine N-methyltransferase activity|nucleotide binding|protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						GTGCTCGCCATGCTGGTCCAG	0.637000														19			5		0	0	3.59834e-05	0	0
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74957790	74957790	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr1:74957790C>T	uc001dge.2	+	24	2561	c.2494C>T	c.(2494-2496)Cct>Tct	p.P832S	FPGT-TNNI3K_uc001dgf.2_Missense_Mutation_p.P731S	NM_001112808	NP_001106279	Q59H18	TNI3K_HUMAN	Homo sapiens FPGT-TNNI3K readthrough (FPGT-TNNI3K), transcript variant 1, mRNA.	731						cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding										GCTGATGTCTCCTGCATCAAG	0.453000														175			21		0	0	0.000586117	0	0
UBR4	23352	broad.mit.edu	37	1	19494609	19494610	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr1:19494609_19494610CC>AA	uc001bbi.3	-	27	3814_3815	c.3810_3811GG>TT	c.(3808-3813)ctgggg>ctTTgg	p.G1271W	UBR4_uc001bbm.1_Missense_Mutation_p.G482W	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	1271					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CAGAGAGTCCCCAGGTGTGCAG	0.495000														80			6		0	0	6.4e-05	0	0
ATP8B2	57198	broad.mit.edu	37	1	154316679	154316679	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr1:154316679C>T	uc001fex.3	+	18	2083	c.2083C>T	c.(2083-2085)Ctc>Ttc	p.L695F		NM_020452	NP_065185	P98198	AT8B2_HUMAN	Homo sapiens ATPase, class I, type 8B, member 2 (ATP8B2), transcript variant 1, mRNA.	681					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GACCATTGCCCTCCTGACACT	0.537000														48			7		0	0	0.000157383	0	0
MLL2	8085	broad.mit.edu	37	12	49420214	49420215	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr12:49420214_49420215GG>AA	uc001rta.4	-	47	15534_15535	c.15534_15535CC>TT	c.(15532-15537)ttccgt>ttTTgt	p.R5179C		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	5179	FYR N-terminal.		R -> H (in KABS).		chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						CCCCCCACACGGAACATGTGCA	0.589000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				23			10		0	0	6.4e-05	0	0
AK308867	0	broad.mit.edu	37	16	70268158	70268158	+	RNA	SNP	A	C	C			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr16:70268158A>C	uc010cfp.1	-	2		c.257T>G								Homo sapiens cDNA, FLJ98908.																		TTCTTCATTAAAACAGCTACT	0.333000														11			3		0	0	6.4e-05	0	0
FAM60A	58516	broad.mit.edu	37	12	31448266	31448266	+	Splice_Site	SNP	A	G	G			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr12:31448266A>G	uc001rkc.3	-	2	446	c.204_splice	c.e2-1	p.G68_splice	FAM60A_uc010sjz.2_Splice_Site_p.G43_splice|FAM60A_uc001rkd.3_Splice_Site_p.G43_splice|FAM60A_uc010ska.2_Splice_Site_p.G43_splice|FAM60A_uc001rke.3_Splice_Site_p.G43_splice|FAM60A_uc010skb.2_Intron	NM_021238	NP_067061	Q9NP50	FA60A_HUMAN	Homo sapiens family with sequence similarity 60, member A (FAM60A), transcript variant 2, mRNA.	43										large_intestine(1)|lung(2)	3	all_cancers(9;5.22e-13)|all_epithelial(9;4e-13)|all_lung(12;1.2e-11)|Lung NSC(12;2.17e-09)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0207)|Lung SC(12;0.0592)|Esophageal squamous(101;0.162)					GTCTCATGCAATCTGATAAGA	0.383000														55			12		0	0	0.000219431	0	0
SCFD1	23256	broad.mit.edu	37	14	31204066	31204066	+	Splice_Site	SNP	T	C	C			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr14:31204066T>C	uc001wqm.1	+	24	1929	c.1905_splice	c.e24+2	p.Q635_splice	SCFD1_uc001wqn.1_Splice_Site_p.Q568_splice|SCFD1_uc010tpg.1_Splice_Site_p.Q576_splice|SCFD1_uc010tph.1_Splice_Site_p.Q450_splice|SCFD1_uc010amf.1_Splice_Site_p.Q450_splice|SCFD1_uc010tpi.1_Splice_Site_p.Q543_splice	NM_016106	NP_057190	Q8WVM8	SCFD1_HUMAN	Homo sapiens sec1 family domain containing 1 (SCFD1), transcript variant 1, mRNA.	635					post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	Golgi cisterna membrane|Golgi-associated vesicle|cis-Golgi network|endoplasmic reticulum membrane|plasma membrane	syntaxin-5 binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		ATAAAACAGGTAAAGTATACA	0.358000														24			36		0	0	0.00058488	0	0
ECE2	9718	broad.mit.edu	37	3	183967612	183967612	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr3:183967612G>A	uc003fni.4	+	0	168	c.130G>A	c.(130-132)Gac>Aac	p.D44N	ALG3_uc003fne.2_5'Flank|ALG3_uc011brc.1_5'Flank|ALG3_uc011brd.1_5'Flank|ALG3_uc011bre.1_5'Flank|ALG3_uc011brf.1_5'Flank|ECE2_uc003fnh.4_Missense_Mutation_p.D44N	NM_014693	NP_055508	O60344	ECE2_HUMAN	Homo sapiens endothelin converting enzyme 2 (ECE2), transcript variant 1, mRNA.	44	Methyltransferase-like region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	Golgi membrane|cytoplasmic vesicle membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TTGGTTCGGGGACTTCTCCTC	0.652000											OREG0015944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		34			29		0	0	0.000692331	0	0
CCDC83	220047	broad.mit.edu	37	11	85606409	85606409	+	Silent	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr11:85606409G>A	uc001pbg.1	+	5	1097	c.585G>A	c.(583-585)aaG>aaA	p.K195K	CCDC83_uc001pbh.1_Silent_p.K195K|CCDC83_uc001pbj.1_Silent_p.K96K|CCDC83_uc001pbi.1_Non-coding_Transcript	NM_173556	NP_775827	Q8IWF9	CCD83_HUMAN	Homo sapiens coiled-coil domain containing 83 (CCDC83), mRNA.	195										breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				TGGACCAAAAGAAGGAATGGG	0.279000														54			42		0	0	0.000781405	0	0
VCP	7415	broad.mit.edu	37	9	35061054	35061055	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr9:35061054_35061055GG>AA	uc003zvy.2	-	10	1705_1706	c.1316_1317CC>TT	c.(1315-1317)gcc>gTT	p.A439V	VCP_uc010mkh.1_Missense_Mutation_p.A108V|VCP_uc010mki.1_Missense_Mutation_p.A394V	NM_007126	NP_009057	P55072	TERA_HUMAN	Homo sapiens valosin containing protein (VCP), mRNA.	439					ER-associated protein catabolic process|activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding	p.A439A(2)		breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TCATGACCTCGGCATCAATGGT	0.530000														116			36		0	0	6.4e-05	0	0
CAP2	10486	broad.mit.edu	37	6	17543150	17543150	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr6:17543150C>T	uc003ncb.3	+	9	1328	c.1085C>T	c.(1084-1086)tCa>tTa	p.S362L	CAP2_uc010jpk.1_Non-coding_Transcript|CAP2_uc011dja.2_Missense_Mutation_p.S336L|CAP2_uc011djb.2_Missense_Mutation_p.S298L|CAP2_uc011djc.2_Missense_Mutation_p.S250L|CAP2_uc011djd.2_Missense_Mutation_p.S102L	NM_006366	NP_006357	P40123	CAP2_HUMAN	Homo sapiens CAP, adenylate cyclase-associated protein, 2 (yeast) (CAP2), mRNA.	362	C-CAP/cofactor C-like.				activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			TGCGAAAAATCAACTATTCAG	0.338000														81			48		0	0	0.000781405	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	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(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(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					51			19		0	0	0.000175454	0	0
IGFN1	91156	broad.mit.edu	37	1	201196074	201196074	+	Silent	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr1:201196074G>A	uc001gwc.3	+	22	10981	c.10851G>A	c.(10849-10851)ctG>ctA	p.L3617L	IGFN1_uc001gwb.3_Non-coding_Transcript	NM_001164586	NP_001158058			Homo sapiens immunoglobulin-like and fibronectin type III domain containing 1 (IGFN1), mRNA.											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CCCGGTTCCTGGTGGGCCTGC	0.662000														28			58		0	0	0.000781405	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36278216	36278216	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr19:36278216C>T	uc002obs.2	+	20	2410	c.2266C>T	c.(2266-2268)Cag>Tag	p.Q756*	ARHGAP33_uc002obt.2_Nonsense_Mutation_p.Q781*|ARHGAP33_uc002obv.1_Nonsense_Mutation_p.Q505*	NM_052948	NP_443180	O14559	RHG33_HUMAN	Homo sapiens Rho GTPase activating protein 33 (ARHGAP33), transcript variant 1, mRNA.	809					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						GCAACAGAGCCAGCAGGAGTG	0.721000														15			8		0	0	0.000442599	0	0
DENND3	22898	broad.mit.edu	37	8	142146806	142146807	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr8:142146806_142146807GG>AA	uc003yvy.3	+	1	339_340	c.61_62GG>AA	c.(61-63)ggg>AAg	p.G21K	DENND3_uc003yvw.1_Missense_Mutation_p.G34K|DENND3_uc003yvx.3_Missense_Mutation_p.G101K|DENND3_uc010mep.3_Missense_Mutation_p.G34K	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	Homo sapiens DENN/MADD domain containing 3 (DENND3), mRNA.	21	UDENN.									breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			GGGCCTCCCGGGGCCCCCCAGA	0.653000														9			4		0	0	6.4e-05	0	0
EDIL3	10085	broad.mit.edu	37	5	83433158	83433158	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr5:83433158C>T	uc003kio.1	-	4	789	c.370G>A	c.(370-372)Gaa>Aaa	p.E124K	EDIL3_uc003kip.1_Missense_Mutation_p.E114K	NM_005711	NP_005702	O43854	EDIL3_HUMAN	Homo sapiens EGF-like repeats and discoidin I-like domains 3 (EDIL3), mRNA.	124	EGF-like 3.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding	p.E124D(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		GGCTCAACTTCGCATTCATTT	0.333000														39			23		0	0	0.000229342	0	0
PDIA3	2923	broad.mit.edu	37	15	44053692	44053692	+	Silent	SNP	T	C	C			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr15:44053692T>C	uc001zsu.3	+	3	583	c.435T>C	c.(433-435)ttT>ttC	p.F145F	PDIA3_uc010bdp.3_Silent_p.F125F|PDIA3_uc010ued.2_5'UTR	NM_005313	NP_005304	P30101	PDIA3_HUMAN	Homo sapiens protein disulfide isomerase family A, member 3 (PDIA3), mRNA.	145					cell redox homeostasis|glycerol ether metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|protein import into nucleus|protein retention in ER lumen|signal transduction	endoplasmic reticulum lumen|melanosome	cysteine-type endopeptidase activity|electron carrier activity|phospholipase C activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.48e-07)		AGGAAGAATTTAAGAAATTCA	0.393000														65			19		0	0	0.000175454	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	G	G	rs146714035	by1000genomes	TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr1:145367739A>G	uc021oul.1	+	82	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_uc010oye.2_Intron|NBPF10_uc010oyi.2_Intron|NBPF10_uc010oyj.2_Intron|NBPF10_uc010oyl.2_Intron	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	3445								p.K3445K(8)		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														42			4		0	0	0.00024832	0	0
OR4D9	390199	broad.mit.edu	37	11	59283084	59283084	+	Silent	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr11:59283084G>A	uc010rkv.2	+	0	699	c.699G>A	c.(697-699)agG>agA	p.R233R		NM_001004711	NP_001004711	Q8NGE8	OR4D9_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 9 (OR4D9), mRNA.	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						GGGAAGGCAGGAGGAAAGCCA	0.512000														92			65		0	0	0.000781405	0	0
HRNR	388697	broad.mit.edu	37	1	152188349	152188349	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr1:152188349G>A	uc001ezt.1	-	2	5832	c.5756C>T	c.(5755-5757)tCa>tTa	p.S1919L		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	1919					keratinization		calcium ion binding|protein binding	p.S1919*(2)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGGAAGATGAACCTGAGCT	0.577000														743			67		0	0	0.000781405	0	0
KIAA1244	57221	broad.mit.edu	37	6	138628449	138628449	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr6:138628449G>A	uc003qhu.3	+	22	4059	c.3888G>A	c.(3886-3888)tgG>tgA	p.W1296*		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	Homo sapiens KIAA1244 (KIAA1244), mRNA.	1296					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		AGTCGGGATGGAGACCCTTGT	0.512000														71			40		0	0	0.000228196	0	0
MLL2	8085	broad.mit.edu	37	12	49425221	49425221	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr12:49425221G>A	uc001rta.4	-	38	13267	c.13267C>T	c.(13267-13269)Cca>Tca	p.P4423S		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	4423					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						AGGGCACATGGCTCTTCCCGA	0.622000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				20			14		0	0	0.000219431	0	0
FBXL4	26235	broad.mit.edu	37	6	99365585	99365585	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr6:99365585G>A	uc003ppf.1	-	3	881	c.523C>T	c.(523-525)Ctt>Ttt	p.L175F	FBXL4_uc003ppg.1_Missense_Mutation_p.L175F|FBXL4_uc003pph.1_Intron	NM_012160	NP_036292	Q9UKA2	FBXL4_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 4 (FBXL4), mRNA.	175					ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)		TCTGACCAAAGAATCTCCCAT	0.408000														42			10		0	0	0.000442599	0	0
STK31	56164	broad.mit.edu	37	7	23871965	23871965	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr7:23871965G>A	uc003sws.4	+	23	3107	c.3040G>A	c.(3040-3042)Gaa>Aaa	p.E1014K	STK31_uc003swt.4_Missense_Mutation_p.E991K|STK31_uc011jze.2_Missense_Mutation_p.E991K|STK31_uc010kuq.3_Missense_Mutation_p.E991K|STK31_uc003swv.1_Intron	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	1014	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AAGAAATGGTGAAGCCAACTT	0.313000														113			97		0	0	0.000781405	0	0
CLK2P	1197	broad.mit.edu	37	7	23625490	23625490	+	Missense_Mutation	SNP	C	G	G			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr7:23625490C>G	uc003swk.2	-	0	657	c.7G>C	c.(7-9)Gac>Cac	p.D3H						Homo sapiens CDC-like kinase 2, pseudogene (CLK2P), non-coding RNA.																		TCGAACCAGTCAAACATCTGG	0.488000														20			4		0	0	0.00024832	0	0
DNAH1	25981	broad.mit.edu	37	3	52433701	52433701	+	Silent	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr3:52433701G>A	uc011bef.2	+	76	12843	c.12582G>A	c.(12580-12582)gaG>gaA	p.E4194E	DNAH1_uc003ddv.3_Missense_Mutation_p.R1027K	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	4259					ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGTACACAGAGATGGCCGTTA	0.552000														48			28		0	0	0.000878237	0	0
DDX39B	7919	broad.mit.edu	37	6	31500583	31500584	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr6:31500583_31500584GG>AA	uc003ntt.3	-	6	1498_1499	c.840_841CC>TT	c.(838-843)gacctt>gaTTtt	p.L281F	DDX39B_uc003ntr.3_Missense_Mutation_p.L88F|DDX39B_uc003ntu.3_Missense_Mutation_p.L281F|DDX39B_uc011dnn.2_Missense_Mutation_p.L203F|DDX39B_uc003ntv.3_Missense_Mutation_p.L281F	NM_004640	NP_542165	Q13838	DX39B_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B (DDX39B), transcript variant 1, mRNA.	281	Helicase C-terminal.				RNA secondary structure unwinding|intronless viral mRNA export from host nucleus|spliceosome assembly	nuclear speck|spliceosomal complex|transcription export complex	ATP binding|ATP-dependent RNA helicase activity|ATP-dependent protein binding|U4 snRNA binding|U6 snRNA binding|identical protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						ACATCCAGAAGGTCAAAGAGCT	0.490000														65			25		0	0	6.4e-05	0	0
ZNF799	90576	broad.mit.edu	37	19	12503428	12503428	+	Silent	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr19:12503428C>T	uc010dyt.3	-	2	384	c.180G>A	c.(178-180)agG>agA	p.R60R	ZNF799_uc002mts.4_Intron	NM_001080821	NP_001074290	Q96GE5	ZN799_HUMAN	Homo sapiens zinc finger protein 799 (ZNF799), mRNA.	60	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TTAGATTTTTCCTGGGATATC	0.294000														31			26		0	0	0.00106085	0	0
MGAM	8972	broad.mit.edu	37	7	141803218	141803218	+	Silent	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr7:141803218C>T	uc003vwy.3	+	46	5529	c.5475C>T	c.(5473-5475)ttC>ttT	p.F1825F		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1825					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CACCCTCCTTCAACAATGACC	0.502000														15			10		0	0	0.000978159	0	0
HTRA1	5654	broad.mit.edu	37	10	124273856	124273856	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr10:124273856C>T	uc001lgj.2	+	8	1552	c.1424C>T	c.(1423-1425)cCc>cTc	p.P475L		NM_002775	NP_002766	Q92743	HTRA1_HUMAN	Homo sapiens HtrA serine peptidase 1 (HTRA1), mRNA.	475					proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity	p.P475P(1)		endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				ACAGTGATTCCCGAAGAAATT	0.507000														55			14		0	0	0.000422831	0	0
ALMS1	7840	broad.mit.edu	37	2	73677148	73677148	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr2:73677148C>T	uc002sje.1	+	7	3602	c.3491C>T	c.(3490-3492)cCt>cTt	p.P1164L	ALMS1_uc002sjf.1_Missense_Mutation_p.P1122L|ALMS1_uc002sjg.3_Missense_Mutation_p.P552L|ALMS1_uc002sjh.1_Missense_Mutation_p.P552L	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	1164	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						ACTCATATACCTGAAGAGGCT	0.458000														53			113		0	0	0.000781405	0	0
FAM181A	90050	broad.mit.edu	37	14	94395003	94395003	+	Silent	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr14:94395003G>A	uc001ybz.2	+	2	883	c.558G>A	c.(556-558)caG>caA	p.Q186Q	FAM181A-AS1_uc001yby.2_5'Flank|FAM181A_uc021say.1_Silent_p.Q124Q|FAM181A_uc021saz.1_Silent_p.Q124Q|FAM181A_uc010aus.2_Silent_p.Q124Q|FAM181A_uc001yca.2_Silent_p.Q124Q	NM_138344	NP_001194003	Q8N9Y4	F181A_HUMAN	Homo sapiens family with sequence similarity 181, member A (FAM181A), transcript variant 1, mRNA.	186										cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						AAGCTGCCCAGCCTGGCCAGG	0.632000														13			20		0	0	0.000175454	0	0
KSR2	283455	broad.mit.edu	37	12	118293345	118293345	+	Silent	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr12:118293345C>T	uc001two.2	-	2	328	c.273G>A	c.(271-273)ttG>ttA	p.L91L		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	120					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCGTCATCTCCAAGAGGTCCT	0.607000														23			24		0	0	0.00047179	0	0
NDUFAF5	79133	broad.mit.edu	37	20	13769244	13769244	+	Silent	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr20:13769244C>T	uc002wom.3	+	2	316	c.273C>T	c.(271-273)ccC>ccT	p.P91P	NDUFAF5_uc002woo.3_Non-coding_Transcript|NDUFAF5_uc002won.3_Silent_p.P91P	NM_024120	NP_077025	Q5TEU4	CT007_HUMAN	Homo sapiens chromosome 20 open reading frame 7 (C20orf7), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	91					mitochondrial respiratory chain complex I assembly	extrinsic to mitochondrial inner membrane	methyltransferase activity										GAAATTTCCCCCTTGCTTTGG	0.303000														13			43		0	0	0.000781405	0	0
RFX6	222546	broad.mit.edu	37	6	117248363	117248363	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr6:117248363C>T	uc003pxm.3	+	16	2122	c.2059C>T	c.(2059-2061)Ccc>Tcc	p.P687S		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	Homo sapiens regulatory factor X, 6 (RFX6), mRNA.	687					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	p.P687L(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						GCCCATTTATCCCACTCTCCC	0.522000														27			23		0	0	0.000295444	0	0
VPS53	55275	broad.mit.edu	37	17	440338	440338	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr17:440338C>T	uc010cjo.2	-	17	2092	c.1945G>A	c.(1945-1947)Gtc>Atc	p.V649I	VPS53_uc002frk.3_Missense_Mutation_p.V168I|VPS53_uc002frl.2_Non-coding_Transcript|VPS53_uc002frm.2_Missense_Mutation_p.V620I|VPS53_uc002frn.2_Missense_Mutation_p.V649I|VPS53_uc002fro.2_Missense_Mutation_p.V451I|VPS53_uc010cjp.1_Missense_Mutation_p.V372I	NM_001128159	NP_001121631	Q5VIR6	VPS53_HUMAN	Homo sapiens vacuolar protein sorting 53 homolog (S. cerevisiae) (VPS53), transcript variant 1, mRNA.	649					protein transport	Golgi apparatus|endosome membrane				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		ATGATGGGGACGTTCTGCTTG	0.527000														12			13		0	0	0.000219431	0	0
AK057473	0	broad.mit.edu	37	17	20805809	20805809	+	RNA	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr17:20805809C>T	uc002gyg.1	+	3		c.993C>T			AK057473_uc002gyh.1_Non-coding_Transcript					Homo sapiens cDNA FLJ32911 fis, clone TESTI2006210.																		TGTTGATTTTCCTGCCCTTCT	0.512000														7			22		0	0	0.000295444	0	0
CCDC111	201973	broad.mit.edu	37	4	185615812	185615812	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr4:185615812A>C	uc003iwk.2	+	13	1995	c.1562A>C	c.(1561-1563)tAt>tCt	p.Y521S	CCDC111_uc003iwj.2_Missense_Mutation_p.Y520S|CCDC111_uc003iwm.2_Missense_Mutation_p.Y392S|CCDC111_uc003iwn.2_Missense_Mutation_p.Y261S|MLF1IP_uc003iwp.3_Non-coding_Transcript|MLF1IP_uc003iwq.3_3'UTR	NM_152683	NP_689896	Q96LW4	CC111_HUMAN	Homo sapiens coiled-coil domain containing 111 (CCDC111), mRNA.	521					DNA replication, synthesis of RNA primer		DNA primase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(2)	16		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.00531)|Hepatocellular(41;0.00932)|Renal(120;0.0246)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|all_neural(102;0.131)		all cancers(43;5.84e-27)|Epithelial(43;2.2e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.28e-11)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.03e-05)|Colorectal(24;7.57e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000249)|COAD - Colon adenocarcinoma(29;0.000502)|LUSC - Lung squamous cell carcinoma(40;0.00995)|READ - Rectum adenocarcinoma(43;0.173)		GATGATGCTTATTTTTTAGAA	0.413000														35			12		0	0	0.000978159	0	0
ARAP3	64411	broad.mit.edu	37	5	141051754	141051754	+	Silent	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr5:141051754G>A	uc003llm.3	-	9	1578	c.1500C>T	c.(1498-1500)gcC>gcT	p.A500A	ARAP3_uc011dbe.2_Silent_p.A162A|ARAP3_uc003lln.3_Silent_p.A422A|ARAP3_uc003llo.1_Silent_p.A500A	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 (ARAP3), mRNA.	500	Arf-GAP.				cytoskeleton organization|negative regulation of Rho protein signal transduction|negative regulation of cell migration|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						ACTGCCGGTTGGCCCGATTAG	0.622000														52			25		0	0	0.000586117	0	0
PLSCR2	57047	broad.mit.edu	37	3	146166996	146166996	+	Silent	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr3:146166996G>A	uc021xfa.1	-	7	1301	c.861C>T	c.(859-861)ctC>ctT	p.L287L	PLSCR2_uc003evw.2_Silent_p.L283L|PLSCR2_uc003evv.2_Silent_p.L214L	NM_001199978	NP_001186907	Q9NRY7	PLS2_HUMAN	Homo sapiens phospholipid scramblase 2 (PLSCR2), transcript variant 1, mRNA.	214					phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity			endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						GACTTACAATGAGGAAACAGG	0.348000														58			41		0	0	0.000509022	0	0
SEMA4F	10505	broad.mit.edu	37	2	74907289	74907289	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr2:74907289C>T	uc002sna.1	+	13	2377	c.2266C>T	c.(2266-2268)Cgg>Tgg	p.R756W	SEMA4F_uc010ffr.1_Missense_Mutation_p.R368W|SEMA4F_uc002snb.1_Missense_Mutation_p.R368W|SEMA4F_uc002snc.1_Missense_Mutation_p.R601W	NM_004263	NP_004254	O95754	SEM4F_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F (SEMA4F), mRNA.	756					cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						AGCCCACATTCGGCTAACTGG	0.557000														69			10		0	0	0.000978159	0	0
GPR98	84059	broad.mit.edu	37	5	90000297	90000297	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr5:90000297G>A	uc003kju.3	+	35	8474	c.8378G>A	c.(8377-8379)aGg>aAg	p.R2793K	GPR98_uc003kjt.3_Missense_Mutation_p.R499K|GPR98_uc003kjv.3_Missense_Mutation_p.R393K	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	2793					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			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)		TATGATGTCAGGACACAAGGT	0.303000														3			4		0	0	0.00024832	0	0
OR5R1	219479	broad.mit.edu	37	11	56185123	56185123	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr11:56185123C>T	uc010rji.2	-	0	586	c.586G>A	c.(586-588)Gaa>Aaa	p.E196K	OR8U8_uc001nit.2_Intron	NM_001004744	NP_001004744	Q8NH85	OR5R1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily R, member 1 (OR5R1), mRNA.	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E196K(2)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					ATCAGAATTTCCTTCATGTGT	0.433000														20			14		0	0	0.000151284	0	0
RGS22	26166	broad.mit.edu	37	8	101014456	101014456	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr8:101014456G>A	uc003yjb.1	-	17	2959	c.2764C>T	c.(2764-2766)Cca>Tca	p.P922S	RGS22_uc003yja.1_Missense_Mutation_p.P741S|RGS22_uc003yjc.1_Missense_Mutation_p.P910S|RGS22_uc011lgz.1_Non-coding_Transcript|RGS22_uc022azf.1_Missense_Mutation_p.P311S|SNORD77_uc022azg.1_5'Flank	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA.	922	RGS 1.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			AGAGAAGCTGGACTGTTGGGT	0.323000														45			19		0	0	0.000295444	0	0
CCDC71	64925	broad.mit.edu	37	3	49200991	49200991	+	Silent	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr3:49200991C>T	uc003cwg.4	-	1	789	c.651G>A	c.(649-651)ggG>ggA	p.G217G	CCDC71_uc021wxs.1_Silent_p.G217G	NM_022903	NP_075054	Q8IV32	CCD71_HUMAN	Homo sapiens coiled-coil domain containing 71 (CCDC71), mRNA.	217										endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CCGGACCCTTCCCTGAACTTT	0.592000														63			44		0	0	0.000781405	0	0
SDK2	54549	broad.mit.edu	37	17	71380034	71380034	+	Silent	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr17:71380034G>A	uc010dfm.3	-	32	4686	c.4686C>T	c.(4684-4686)gcC>gcT	p.A1562A	SDK2_uc002jjt.4_Silent_p.A721A|SDK2_uc010dfn.2_Silent_p.A1241A	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	1562	Fibronectin type-III 10.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						CAGCCCATGTGGCCCCTGGGT	0.602000														55			21		0	0	0.000586117	0	0
ZNF33A	7581	broad.mit.edu	37	10	38345158	38345158	+	Silent	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr10:38345158C>T	uc010qev.2	+	3	2228	c.2124C>T	c.(2122-2124)ttC>ttT	p.F708F	ZNF33A_uc001izg.3_Silent_p.F702F|ZNF33A_uc001izh.3_Silent_p.F701F|ZNF33A_uc001izi.1_Intron|ZNF33A_uc021ppe.1_Silent_p.F702F	NM_006974	NP_008905	Q06730	ZN33A_HUMAN	Homo sapiens zinc finger protein 33A (ZNF33A), transcript variant 2, mRNA.	701						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						GGAAATTCTTCAGGCACAAAT	0.393000														18			25		0	0	0.00047179	0	0
KRTAP10-10	353333	broad.mit.edu	37	21	46057641	46057641	+	Missense_Mutation	SNP	G	A	A	rs68027322		TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr21:46057641G>A	uc002zfq.3	+	0	369	c.307G>A	c.(307-309)Gtc>Atc	p.V103I	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_181688	NP_859016	P60014	KR10A_HUMAN	Homo sapiens keratin associated protein 10-10 (KRTAP10-10), mRNA.	103	15 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						ctgtgtgcccgtctgctgcgt	0.622000														41			40		0	0	0.000319135	0	0
USP4	7375	broad.mit.edu	37	3	49331918	49331919	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr3:49331918_49331919CC>AA	uc003cwq.2	-	13	1883_1884	c.1804_1805GG>TT	c.(1804-1806)ggg>TTg	p.G602L	USP4_uc003cwp.2_Missense_Mutation_p.G332L|USP4_uc003cwr.2_Missense_Mutation_p.G555L	NM_003363	NP_003354	Q13107	UBP4_HUMAN	Homo sapiens ubiquitin specific peptidase 4 (proto-oncogene) (USP4), transcript variant 1, mRNA.	602					negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		TAGTGGCTGCCCATATAGCGCT	0.515000														86			7		0	0	6.4e-05	0	0
LOC644936	644936	broad.mit.edu	37	5	79595817	79595817	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr5:79595817C>T	uc010jai.3	-	0	481	c.340G>A	c.(340-342)Gaa>Aaa	p.E114K						Homo sapiens actin, beta pseudogene (LOC644936), non-coding RNA.																		CCACAGGATTCCATGCCCACG	0.522000														13			8		0	0	0.000157383	0	0
X97876	0	broad.mit.edu	37	9	66499794	66499794	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr9:66499794C>T	uc004aee.1	+	0	604	c.604C>T	c.(604-606)Cgc>Tgc	p.R202C	X97876_uc004aed.1_Non-coding_Transcript					Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134).																		GTGCAAGTCGCGCAAGGAGCA	0.587000														53			9		0	0	0.00010058	0	0
NLRP7	199713	broad.mit.edu	37	19	55451704	55451704	+	Silent	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr19:55451704C>T	uc002qih.4	-	3	559	c.483G>A	c.(481-483)ttG>ttA	p.L161L	NLRP7_uc010esk.3_Silent_p.L161L|NLRP7_uc002qig.4_Silent_p.L161L|NLRP7_uc002qii.4_Silent_p.L161L|NLRP7_uc010esl.3_Silent_p.L189L	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	161							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TTCTGGGATTCAAGAATGGAA	0.507000														82			84		0	0	0.000781405	0	0
DDX42	11325	broad.mit.edu	37	17	61889322	61889322	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr17:61889322A>G	uc002jbu.3	+	14	1686	c.1429A>G	c.(1429-1431)Att>Gtt	p.I477V	DDX42_uc002jbv.3_Missense_Mutation_p.I477V|DDX42_uc002jbw.1_Missense_Mutation_p.I213V|DDX42_uc002jbx.3_Missense_Mutation_p.I213V|DDX42_uc002jby.3_Missense_Mutation_p.I23V	NM_007372	NP_987095	Q86XP3	DDX42_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 42 (DDX42), transcript variant 1, mRNA.	477					protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						GATTGTGGAGATTCTCCATTC	0.453000														368			38		0	0	0.000953801	0	0
ZNF518B	85460	broad.mit.edu	37	4	10445449	10445449	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr4:10445449A>G	uc003gmn.3	-	2	2991	c.2504T>C	c.(2503-2505)aTg>aCg	p.M835T	ZNF518B_uc021xme.1_Missense_Mutation_p.M835T	NM_053042	NP_444270	Q9C0D4	Z518B_HUMAN	Homo sapiens zinc finger protein 518B (ZNF518B), mRNA.	835					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						ATTTGGGGACATATCTATTGG	0.458000														19			70		0	0	0.000781405	0	0
GNE	10020	broad.mit.edu	37	9	36233983	36233983	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr9:36233983G>A	uc010mlh.3	-	4	1137	c.916C>T	c.(916-918)Cga>Tga	p.R306*	GNE_uc010mlg.3_Nonsense_Mutation_p.R306*|GNE_uc011lpl.2_Nonsense_Mutation_p.R196*|GNE_uc010mli.3_Nonsense_Mutation_p.R337*|GNE_uc010mlj.3_Nonsense_Mutation_p.R301*	NM_005476	NP_005467	Q9Y223	GLCNE_HUMAN	Homo sapiens glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase (GNE), transcript variant 2, mRNA.	306			R -> Q (in NM).		N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process|cell adhesion|lipopolysaccharide biosynthetic process		ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			STAD - Stomach adenocarcinoma(86;0.228)			CCAACTTCTCGAACCCCACAG	0.463000														66			74		0	0	0.000781405	0	0
SLC25A42	284439	broad.mit.edu	37	19	19206977	19206977	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr19:19206977A>C	uc002nlf.2	+	1	200	c.44A>C	c.(43-45)gAt>gCt	p.D15A	SLC25A42_uc010xqn.1_Missense_Mutation_p.D67A	NM_178526	NP_848621	Q86VD7	S2542_HUMAN	Homo sapiens solute carrier family 25, member 42 (SLC25A42), mRNA.	15					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			cervix(1)|large_intestine(2)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)			TTGCATGAGGATGCTGAGGCT	0.642000														13			9		0	0	0.000978159	0	0
TSSC4	10078	broad.mit.edu	37	11	2424493	2424493	+	Silent	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr11:2424493G>A	uc021qcg.1	+	0	630	c.630G>A	c.(628-630)gaG>gaA	p.E210E	TSSC4_uc001lwi.3_Silent_p.E146E|TSSC4_uc001lwk.3_Silent_p.E210E|TSSC4_uc001lwl.3_Silent_p.E210E	NM_005706	NP_005697	Q9Y5U2	TSSC4_HUMAN	Homo sapiens tumor suppressing subtransferable candidate 4 (TSSC4), mRNA.	210										endometrium(3)|large_intestine(1)|lung(4)	8		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.00145)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCTGTGGGGAGGGGAGGGTCA	0.662000														182			111		0	0	0.000781405	0	0
CEP350	9857	broad.mit.edu	37	1	180068003	180068003	+	Silent	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr1:180068003C>T	uc001gnt.3	+	36	9455	c.9072C>T	c.(9070-9072)ttC>ttT	p.F3024F	CEP350_uc009wxl.2_Silent_p.F3023F|CEP350_uc001gnv.3_Silent_p.F1159F|CEP350_uc001gnw.1_Silent_p.F781F|CEP350_uc001gnx.1_Silent_p.F781F	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	Homo sapiens centrosomal protein 350kDa (CEP350), mRNA.	3024						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						CACAGAGCTTCATAGCAAGTG	0.353000														38			8		0	0	0.000442599	0	0
DNAH5	1767	broad.mit.edu	37	5	13920716	13920716	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr5:13920716C>T	uc003jfd.2	-	5	713	c.671G>A	c.(670-672)cGa>cAa	p.R224Q	DNAH5_uc003jfe.1_Non-coding_Transcript	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	224	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R224Q(4)		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)					GTCACACTTTCGAAGGTTCAC	0.393000									Kartagener syndrome					58			46		0	0	0.000589545	0	0
TINF2	26277	broad.mit.edu	37	14	24711504	24711504	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr14:24711504A>T	uc001woa.4	-	0	377	c.35T>A	c.(34-36)cTa>cAa	p.L12Q	TINF2_uc010alm.3_5'Flank|TINF2_uc001wob.4_Missense_Mutation_p.L12Q|TINF2_uc010tof.2_Missense_Mutation_p.L12Q|TINF2_uc001woc.4_Missense_Mutation_p.L12Q	NM_001099274	NP_001092744	Q9BSI4	TINF2_HUMAN	Homo sapiens TERF1 (TRF1)-interacting nuclear factor 2 (TINF2), transcript variant 1, mRNA.	12					negative regulation of epithelial cell proliferation|negative regulation of protein ADP-ribosylation|negative regulation of telomere maintenance via telomerase|positive regulation of telomere maintenance|protein localization to chromosome, telomeric region|telomere assembly|telomere maintenance via telomere lengthening	nuclear telomere cap complex|nucleoplasm|perinucleolar chromocenter	protein binding|telomeric DNA binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0185)		GGCGAAGCGTAGAGCTGCGGG	0.687000									Congenital Dyskeratosis;Ataxia Pancytopenia syndrome		OREG0022621	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		33			8		0	0	0.000157383	0	0
OR51E2	81285	broad.mit.edu	37	11	4703441	4703441	+	Silent	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr11:4703441G>A	uc001lzk.2	-	1	745	c.501C>T	c.(499-501)ttC>ttT	p.F167F	OR51E2_uc021qcr.1_Silent_p.F167F	NM_030774	NP_110401	Q9H255	O51E2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 2 (OR51E2), mRNA.	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A166A(1)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		TGGAGTGGCAGAAGGCCAGCC	0.512000														57			17		0	0	0.00074312	0	0
COL20A1	57642	broad.mit.edu	37	20	61957455	61957455	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr20:61957455G>A	uc011aau.2	+	29	3510	c.3410G>A	c.(3409-3411)aGa>aAa	p.R1137K	COL20A1_uc011aav.2_Missense_Mutation_p.R958K	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA.	1137	Collagen-like 2.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					CAGGGAATGAGAGGCCTGGAG	0.657000														63			14		0	0	0.00074312	0	0
HHATL	57467	broad.mit.edu	37	3	42735116	42735116	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr3:42735116C>T	uc003clw.3	-	10	1388	c.1241G>A	c.(1240-1242)cGa>cAa	p.R414Q	HHATL_uc003clx.3_Missense_Mutation_p.R414Q	NM_020707	NP_065758	Q9HCP6	HHATL_HUMAN	Homo sapiens hedgehog acyltransferase-like (HHATL), transcript variant 1, mRNA.	414					negative regulation of N-terminal protein palmitoylation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19				KIRC - Kidney renal clear cell carcinoma(284;0.215)		CACCTCAATTCGTGCTAGGGG	0.577000														10			10		0	0	0.00010058	0	0
KCNH7	90134	broad.mit.edu	37	2	163374414	163374414	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr2:163374414G>A	uc002uch.2	-	3	947	c.718C>T	c.(718-720)Ccc>Tcc	p.P240S	KCNH7_uc002uci.3_Missense_Mutation_p.P240S	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	240					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TGCCTTTTGGGAGAGGAATGG	0.498000														8			5		0	0	3.59834e-05	0	0
IQGAP2	10788	broad.mit.edu	37	5	76003063	76003063	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr5:76003063G>A	uc003kek.3	+	35	4875	c.4653G>A	c.(4651-4653)atG>atA	p.M1551I	IQGAP2_uc011csv.2_Missense_Mutation_p.M1047I|IQGAP2_uc003kel.3_Missense_Mutation_p.M1047I	NM_006633	NP_006624	Q13576	IQGA2_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 2 (IQGAP2), mRNA.	1551					small GTPase mediated signal transduction	actin cytoskeleton	GTPase inhibitor activity|Ras GTPase activator activity|actin binding|calmodulin binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		TAGCTGTAATGAAAATGTTTG	0.308000														30			7		0	0	0.000157383	0	0
OS9	10956	broad.mit.edu	37	12	58114030	58114030	+	Silent	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr12:58114030G>A	uc001spj.3	+	12	1956	c.1749G>A	c.(1747-1749)gaG>gaA	p.E583E	OS9_uc010srx.2_Intron|OS9_uc001spk.3_Silent_p.E568E|OS9_uc001spl.3_Intron|OS9_uc001spm.3_Intron|OS9_uc001spn.3_Intron|OS9_uc010sry.2_Intron|OS9_uc010srz.2_Intron	NM_006812	NP_006803	Q13438	OS9_HUMAN	Homo sapiens osteosarcoma amplified 9, endoplasmic reticulum lectin (OS9), transcript variant 1, mRNA.	583					ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress	Hrd1p ubiquitin ligase complex|endoplasmic reticulum lumen	glycoprotein binding|protein binding|sugar binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			TGGAGAGGGAGGGACTCACAG	0.632000														30			18		0	0	0.000132079	0	0
HEG1	57493	broad.mit.edu	37	3	124689608	124689609	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr3:124689608_124689609CC>TT	uc011bke.2	-	17	4401_4402	c.4333_4334GG>AA	c.(4333-4335)gga>AAa	p.G1445K	HEG1_uc003ehr.4_Missense_Mutation_p.G199K|HEG1_uc003ehs.4_Missense_Mutation_p.G1345K	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN	Homo sapiens HEG homolog 1 (zebrafish) (HEG1), mRNA.	1345						extracellular region|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						CGGGTAGAGTCCGTTTCGTTCA	0.436000														8			5		0	0	6.4e-05	0	0
NELL1	4745	broad.mit.edu	37	11	21135260	21135260	+	Splice_Site	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr11:21135260G>A	uc009yid.3	+	14	1663	c.1510_splice	c.e14+1	p.E504_splice	NELL1_uc010rdp.2_Splice_Site_p.E236_splice|NELL1_uc001mqe.3_Splice_Site_p.E476_splice|NELL1_uc001mqf.3_Splice_Site_p.E476_splice|NELL1_uc010rdo.2_Splice_Site_p.E419_splice	NM_006157	NP_006148	Q92832	NELL1_HUMAN	Homo sapiens NEL-like 1 (chicken) (NELL1), transcript variant 1, mRNA.	476	EGF-like 3.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						CTCTTGTACAGGTGAGCTTTA	0.393000														28			13		0	0	0.000219431	0	0
MXRA5	25878	broad.mit.edu	37	X	3241141	3241141	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chrX:3241141C>T	uc004crg.4	-	4	2742	c.2585G>A	c.(2584-2586)aGc>aAc	p.S862N		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	862						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TAGCCCCATGCTGGCTGAGGA	0.473000														4			40		0	0	0.000270559	0	0
SMARCA2	6595	broad.mit.edu	37	9	2039779	2039779	+	Silent	SNP	G	A	A	rs113070757	byFrequency	TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr9:2039779G>A	uc003zhc.3	+	3	768	c.669G>A	c.(667-669)caG>caA	p.Q223Q	SMARCA2_uc003zhd.3_Silent_p.Q223Q|SMARCA2_uc010mha.3_Silent_p.Q214Q	NM_003070	NP_003061	P51531	SMCA2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 (SMARCA2), transcript variant 1, mRNA.	223	Poly-Gln.				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	SWI/SNF complex|WINAC complex|intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm	ATP binding|DNA-dependent ATPase activity|RNA polymerase II transcription coactivator activity|helicase activity|protein binding|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		agcagcaacagcagcagcagc	0.642000														13			3		0	0	6.4e-05	0	0
ANO2	57101	broad.mit.edu	37	12	5687593	5687593	+	Silent	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr12:5687593G>A	uc001qnm.2	-	21	2397	c.2325C>T	c.(2323-2325)ctC>ctT	p.L775L		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	780						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	p.V774V(1)		central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						TCTTTGCATCGAGCCGCACTT	0.542000														36			21		0	0	0.000375601	0	0
MUC16	94025	broad.mit.edu	37	19	8987332	8987332	+	Missense_Mutation	SNP	C	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr19:8987332C>A	uc002mkp.3	-	67	41959	c.41755G>T	c.(41755-41757)Ggg>Tgg	p.G13919W	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Missense_Mutation_p.G736W|MUC16_uc021uog.1_Non-coding_Transcript	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13922				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						CTGACCACCCCGGCTAGGGCA	0.597000														17			18		3.8784e-16	4.02299e-15	0.000229342	1	0
PEAK1	79834	broad.mit.edu	37	15	77425888	77425888	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr15:77425888C>T	uc021sqy.1	-	6	4112	c.3536G>A	c.(3535-3537)aGt>aAt	p.S1179N		NM_024776	NP_079052	Q9H792	PEAK1_HUMAN	Homo sapiens NKF3 kinase family member (PEAK1), mRNA.	1179					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										GACACAAAGACTACTTTCCAT	0.473000														126			19		0	0	0.000958276	0	0
BAI2	576	broad.mit.edu	37	1	32221987	32221987	+	Silent	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr1:32221987G>A	uc001btn.3	-	3	805	c.451C>T	c.(451-453)Ctg>Ttg	p.L151L	BAI2_uc010ogp.2_Silent_p.L139L|BAI2_uc010ogq.2_Silent_p.L151L|BAI2_uc001bto.3_Silent_p.L151L|BAI2_uc001btq.1_Silent_p.L139L|BAI2_uc010ogr.1_Silent_p.L139L	NM_001703	NP_001694	O60241	BAI2_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 2 (BAI2), mRNA.	151					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		TCGAAGTGCAGGAAGGTAAAG	0.687000														10			13		0	0	0.00010058	0	0
CAMSAP2	23271	broad.mit.edu	37	1	200817884	200817884	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr1:200817884C>T	uc001gvl.3	+	11	2290	c.2020C>T	c.(2020-2022)Cct>Tct	p.P674S	CAMSAP2_uc001gvk.3_Missense_Mutation_p.P663S|CAMSAP2_uc001gvm.3_Missense_Mutation_p.P647S	NM_203459	NP_982284	Q08AD1	CAMP2_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein family, member 2 (CAMSAP2), mRNA.	674						cytoplasm|microtubule	protein binding										AGCTTTGAGTCCTTGTCCAAG	0.418000														20			45		0	0	0.000680045	0	0
COL4A2	1284	broad.mit.edu	37	13	111142066	111142067	+	Nonsense_Mutation	DNP	GG	TA	TA			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr13:111142066_111142067GG>TA	uc001vqx.3	+	35	3569_3570	c.3280_3281GG>TA	c.(3280-3282)ggg>TAg	p.G1094*		NM_001846	NP_001837	P08572	CO4A2_HUMAN	Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.	1094	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			AGGTGACATCGGGGACACTATA	0.441000														29			54		0	0	6.4e-05	0	0
CUZD1	50624	broad.mit.edu	37	10	124598677	124598677	+	Silent	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr10:124598677G>A	uc001lgs.3	-	4	1255	c.304C>T	c.(304-306)Ctg>Ttg	p.L102L	CUZD1_uc001lgp.3_5'Flank|CUZD1_uc009yad.3_5'Flank|CUZD1_uc009yaf.3_Intron|CUZD1_uc001lgr.3_5'UTR|CUZD1_uc010qty.2_5'UTR|CUZD1_uc009yae.3_5'UTR|CUZD1_uc010qtz.2_Silent_p.L102L	NM_022034	NP_071317	Q86UP6	CUZD1_HUMAN	Homo sapiens CUB and zona pellucida-like domains 1 (CUZD1), transcript variant 1, mRNA.	102	CUB 1.				cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		TGCCCTAGCAGAGGCCCATTG	0.418000														107			36		0	0	0.000228196	0	0
ZNF335	63925	broad.mit.edu	37	20	44592393	44592393	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr20:44592393C>T	uc002xqw.3	-	7	1462	c.1339G>A	c.(1339-1341)Ggc>Agc	p.G447S	ZNF335_uc010zxk.2_Missense_Mutation_p.G292S	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN	Homo sapiens zinc finger protein 335 (ZNF335), mRNA.	447					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G447G(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				TATTTCTTGCCTAGGAAGCGC	0.607000														148			53		0	0	0.000781405	0	0
ZNF551	90233	broad.mit.edu	37	19	58265665	58265665	+	Silent	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr19:58265665C>T	uc002qpx.3	+	2	1390	c.1167C>T	c.(1165-1167)tcC>tcT	p.S389S	ZNF587_uc002qqb.2_Intron|ZNF551_uc002qqa.3_Silent_p.S389S	NM_173632	NP_775903	Q7Z340	ZN551_HUMAN	Homo sapiens zinc finger protein 776 (ZNF776), mRNA.	404					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GGAGCAACTCCCACCTAAAGG	0.443000														17			28		0	0	0.00106085	0	0
CLEC4M	10332	broad.mit.edu	37	19	7830630	7830630	+	Silent	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr19:7830630C>T	uc010dvt.3	+	3	439	c.321C>T	c.(319-321)tcC>tcT	p.S107S	CLEC4M_uc010xjv.1_Silent_p.S79S|CLEC4M_uc002mhy.2_Silent_p.S51S|CLEC4M_uc002mih.3_Silent_p.S107S|CLEC4M_uc010xjw.2_Silent_p.S86S|CLEC4M_uc010dvs.3_Silent_p.S106S|CLEC4M_uc010xjx.2_Silent_p.S79S|CLEC4M_uc002mhz.3_Silent_p.S107S|CLEC4M_uc002mic.3_Silent_p.S79S|CLEC4M_uc002mia.3_Silent_p.S86S	NM_001144909	NP_001138381	Q9H2X3	CLC4M_HUMAN	Homo sapiens C-type lectin domain family 4, member M (CLEC4M), transcript variant 9, mRNA.	107					cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						CAGAGAAATCCAAGCTGCAGG	0.552000														45			39		0	0	0.000781405	0	0
KIAA1755	85449	broad.mit.edu	37	20	36869541	36869541	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr20:36869541G>A	uc002xhy.1	-	2	1264	c.992C>T	c.(991-993)tCc>tTc	p.S331F	KIAA1755_uc002xhz.1_Missense_Mutation_p.S331F	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN	Homo sapiens KIAA1755 (KIAA1755), mRNA.	331										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				ATTTCCCAAGGAAGGTCCTTC	0.488000														227			106		0	0	0.000781405	0	0
SORCS3	22986	broad.mit.edu	37	10	106918692	106918692	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr10:106918692C>T	uc001kyi.1	+	10	1899	c.1672C>T	c.(1672-1674)Cca>Tca	p.P558S		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	558						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)		CTCTGAAAATCCATATTCCTC	0.448000														42			10		0	0	0.000151284	0	0
ACSL6	23305	broad.mit.edu	37	5	131309057	131309057	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr5:131309057A>G	uc003kvx.2	-	11	1214	c.1105T>C	c.(1105-1107)Ttc>Ctc	p.F369L	ACSL6_uc003kvv.1_Non-coding_Transcript|ACSL6_uc003kwb.3_Missense_Mutation_p.F334L|ACSL6_uc003kvy.2_Missense_Mutation_p.F369L|ACSL6_uc003kvz.2_Intron|ACSL6_uc021ydh.1_Intron|ACSL6_uc010jdo.2_Missense_Mutation_p.F344L|ACSL6_uc003kwa.2_Missense_Mutation_p.F355L|ACSL6_uc003kvw.2_5'UTR|ACSL6_uc010jdn.2_Missense_Mutation_p.F359L|ACSL6_uc010jdp.1_Non-coding_Transcript	NM_015256	NP_001192177	Q9UKU0	ACSL6_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 6 (ACSL6), transcript variant 1, mRNA.	344					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCTCCCTGGAAGAAGCCAACA	0.547000														24			11		0	0	0.000151284	0	0
MED12L	116931	broad.mit.edu	37	3	151075068	151075068	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr3:151075068A>C	uc003eyp.3	+	17	2753	c.2624A>C	c.(2623-2625)tAt>tCt	p.Y875S	MED12L_uc011bnz.2_Missense_Mutation_p.Y735S|P2RY12_uc011boa.2_Intron|P2RY12_uc003eyx.1_Intron|MED12L_uc003eyy.1_Missense_Mutation_p.Y39S	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	875					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCAGGAAGTTATACAACAGGA	0.448000														41			11		0	0	0.000978159	0	0
RAPSN	5913	broad.mit.edu	37	11	47469652	47469652	+	Silent	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr11:47469652G>A	uc001nfi.2	-	1	457	c.243C>T	c.(241-243)ttC>ttT	p.F81F	RAPSN_uc001nfj.2_Silent_p.F81F|RAPSN_uc009yls.1_Silent_p.F81F	NM_005055	NP_005046	Q13702	RAPSN_HUMAN	Homo sapiens receptor-associated protein of the synapse (RAPSN), transcript variant 1, mRNA.	81			F -> L (in dbSNP:rs57878668).		synaptic transmission, cholinergic	cell junction|cytoskeleton|postsynaptic membrane	acetylcholine receptor binding|zinc ion binding	p.D80H(1)		endometrium(1)|large_intestine(3)|lung(6)|ovary(2)	12						TCTCCAGGAGGAAGTCGGCAT	0.612000														31			6		0	0	3.59834e-05	0	0
C2orf78	388960	broad.mit.edu	37	2	74041260	74041260	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr2:74041260G>A	uc002sjr.1	+	1	875	c.754G>A	c.(754-756)Gag>Aag	p.E252K		NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN	Homo sapiens chromosome 2 open reading frame 78 (C2orf78), mRNA.	252										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						GGTGCTGAAGGAGGTTCAGCC	0.483000														93			16		0	0	0.000308642	0	0
KIDINS220	57498	broad.mit.edu	37	2	8940625	8940625	+	Missense_Mutation	SNP	C	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr2:8940625C>A	uc002qzc.2	-	8	987	c.805G>T	c.(805-807)Ggg>Tgg	p.G269W	KIDINS220_uc010yiv.1_Missense_Mutation_p.G35W|KIDINS220_uc002qzd.2_Missense_Mutation_p.G227W|KIDINS220_uc010yiw.1_Missense_Mutation_p.G270W	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	Homo sapiens kinase D-interacting substrate, 220kDa (KIDINS220), mRNA.	269					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ACAGTATCCCCACTCTAAGAA	0.343000														268			9		6.40141e-05	0.000650889	0.000978159	1	0
KIAA1217	56243	broad.mit.edu	37	10	24790328	24790328	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr10:24790328G>A	uc001iru.4	+	8	2258	c.1855G>A	c.(1855-1857)Ggg>Agg	p.G619R	KIAA1217_uc001irs.3_Missense_Mutation_p.G539R|KIAA1217_uc001irt.4_Missense_Mutation_p.G584R|KIAA1217_uc010qcy.2_Missense_Mutation_p.G584R|KIAA1217_uc010qcz.2_Missense_Mutation_p.G584R|KIAA1217_uc001irv.1_Missense_Mutation_p.G434R|KIAA1217_uc010qda.1_Non-coding_Transcript|KIAA1217_uc001irw.3_Missense_Mutation_p.G302R|KIAA1217_uc001irz.3_Missense_Mutation_p.G302R|KIAA1217_uc001irx.3_Missense_Mutation_p.G302R|KIAA1217_uc001iry.3_Missense_Mutation_p.G302R	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	619					embryonic skeletal system development	cytoplasm		p.G619G(1)		breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						TGTGTCTGGTGGGAAGATGCT	0.557000														31			6		0	0	3.59834e-05	0	0
USP9X	8239	broad.mit.edu	37	X	41000634	41000634	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chrX:41000634C>T	uc004dfb.3	+	8	1744	c.1111C>T	c.(1111-1113)Cga>Tga	p.R371*	USP9X_uc004dfc.3_Nonsense_Mutation_p.R371*	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	Homo sapiens ubiquitin specific peptidase 9, X-linked (USP9X), transcript variant 3, mRNA.	371					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						CTATACTCATCGACATGGTAA	0.358000														3			6		0	0	3.59834e-05	0	0
OTUD7A	161725	broad.mit.edu	37	15	31793901	31793901	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr15:31793901C>T	uc001zfq.3	-	7	1235	c.1142G>A	c.(1141-1143)aGa>aAa	p.R381K	OTUD7A_uc001zfr.3_Missense_Mutation_p.R388K	NM_130901	NP_570971	Q8TE49	OTU7A_HUMAN	Homo sapiens OTU domain containing 7A (OTUD7A), mRNA.	381	Catalytic (By similarity).|TRAF-binding (By similarity).					cytoplasm|nucleus	DNA binding|cysteine-type peptidase activity|zinc ion binding			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		ACCTTGTTCTCTTTGCTGGTC	0.577000														50			11		0	0	0.00010058	0	0
APCS	325	broad.mit.edu	37	1	159558413	159558413	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr1:159558413C>T	uc001ftv.3	+	1	683	c.587C>T	c.(586-588)cCt>cTt	p.P196L		NM_001639	NP_001630	P02743	SAMP_HUMAN	Homo sapiens amyloid P component, serum (APCS), mRNA.	196	Pentaxin.				acute-phase response|chaperone-mediated protein complex assembly|protein folding	extracellular space	metal ion binding|sugar binding|unfolded protein binding	p.T195P(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					CAGGGTACCCCTCTCCCTGCC	0.502000														14			19		0	0	0.000175454	0	0
RSPH3	83861	broad.mit.edu	37	6	159398873	159398873	+	Silent	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr6:159398873G>A	uc003qrx.3	-	7	1570	c.1380C>T	c.(1378-1380)atC>atT	p.I460I	RSPH3_uc010kju.3_Silent_p.I364I	NM_031924	NP_114130	Q86UC2	RSPH3_HUMAN	Homo sapiens radial spoke 3 homolog (Chlamydomonas) (RSPH3), mRNA.	460								p.I460I(2)		endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7)	23		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		CCACCTCACGGATCAACACTG	0.408000														34			53		0	0	0.000781405	0	0
SMARCAL1	50485	broad.mit.edu	37	2	217279882	217279882	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr2:217279882C>T	uc002vgc.4	+	2	785	c.455C>T	c.(454-456)cCt>cTt	p.P152L	SMARCAL1_uc002vgd.4_Missense_Mutation_p.P152L|SMARCAL1_uc010fvg.3_Missense_Mutation_p.P152L	NM_014140	NP_054859	Q9NZC9	SMAL1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1), transcript variant 1, mRNA.	152					DNA metabolic process|chromatin modification|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		CAGGCTTCACCTGAGATCAGG	0.512000									Schimke Immuno-Osseous Dysplasia					43			131		0	0	0.000781405	0	0
DDX3X	1654	broad.mit.edu	37	X	41204721	41204721	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chrX:41204721C>T	uc004dfe.3	+	11	2090	c.1235C>T	c.(1234-1236)tCt>tTt	p.S412F	DDX3X_uc011mks.2_Intron|DDX3X_uc004dff.3_Missense_Mutation_p.S412F|DDX3X_uc011mkq.2_Missense_Mutation_p.S396F|DDX3X_uc011mkr.2_Intron|DDX3X_uc004dfg.3_Non-coding_Transcript|DDX3X_uc011mkt.1_Non-coding_Transcript	NM_001356	NP_001347	O00571	DDX3X_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked (DDX3X), transcript variant 1, mRNA.	412	Necessary for interaction with XPO1.				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|RNA binding|protein binding	p.S412F(4)		NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						GGCTCTACCTCTGAAAACATC	0.353000										HNSCC(61;0.18)				13			40		0	0	0.000781405	0	0
USP44	84101	broad.mit.edu	37	12	95927253	95927253	+	Silent	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr12:95927253G>A	uc001teg.3	-	1	924	c.780C>T	c.(778-780)tcC>tcT	p.S260S	USP44_uc001teh.3_Silent_p.S260S|USP44_uc009zte.3_Silent_p.S257S	NM_001042403	NP_115523	Q9H0E7	UBP44_HUMAN	Homo sapiens ubiquitin specific peptidase 44 (USP44), transcript variant 2, mRNA.	260					anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						GTTTAACTGAGGAGTCACTGA	0.393000														72			26		0	0	0.000279167	0	0
PHF21A	51317	broad.mit.edu	37	11	46001479	46001479	+	Silent	SNP	T	G	G			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr11:46001479T>G	uc001ncc.4	-	5	816	c.192A>C	c.(190-192)gtA>gtC	p.V64V	PHF21A_uc001ncb.4_Silent_p.V64V|PHF21A_uc009ykx.3_Silent_p.V64V|PHF21A_uc001nce.2_Silent_p.V64V	NM_001101802	NP_001095272	Q96BD5	PF21A_HUMAN	Homo sapiens PHD finger protein 21A (PHF21A), transcript variant 1, mRNA.	64	Gln-rich.				blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						GTTCTTGCTTTACTATCAGGT	0.388000														78			21		0	0	0.000375601	0	0
CYP4Z1	199974	broad.mit.edu	37	1	47548050	47548050	+	Missense_Mutation	SNP	C	T	T	rs146576339	byFrequency	TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr1:47548050C>T	uc001cqu.1	+	3	412	c.409C>T	c.(409-411)Cgc>Tgc	p.R137C		NM_178134	NP_835235	Q86W10	CP4Z1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 1 (CYP4Z1), mRNA.	137						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						GAAAAAGCACCGCCAGATTGT	0.448000														15			24		0	0	0.000586117	0	0
OGDHL	55753	broad.mit.edu	37	10	50959932	50959932	+	Silent	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr10:50959932C>T	uc009xog.3	-	4	805	c.771G>A	c.(769-771)gtG>gtA	p.V257V	OGDHL_uc001jie.3_Silent_p.V230V|OGDHL_uc010qgt.2_Silent_p.V173V|OGDHL_uc010qgu.2_Silent_p.V21V|OGDHL_uc009xoh.2_Silent_p.V21V	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN	Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	230					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						AGAACTGCATCACACCAGGGG	0.602000														60			54		0	0	0.000781405	0	0
NPY	4852	broad.mit.edu	37	7	24325033	24325033	+	Silent	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr7:24325033C>T	uc003sww.2	+	1	262	c.174C>T	c.(172-174)ctC>ctT	p.L58L		NM_000905	NP_000896	P01303	NPY_HUMAN	Homo sapiens neuropeptide Y (NPY), mRNA.	58					G-protein signaling, coupled to cyclic nucleotide second messenger|adult feeding behavior|calcium ion transport|cell proliferation|cellular component movement|central nervous system neuron development|cerebral cortex development|digestion|neuron projection development|neuropeptide signaling pathway|positive regulation of appetite|synaptic transmission	cell|extracellular space	G-protein coupled receptor activity|calcium channel regulator activity|neuropeptide hormone activity			breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						ACATCAACCTCATCACCAGGC	0.637000														12			11		0	0	0.00010058	0	0
PIF1	80119	broad.mit.edu	37	15	65108888	65108888	+	Missense_Mutation	SNP	C	G	G			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr15:65108888C>G	uc002ant.2	-	11	1817	c.1751G>C	c.(1750-1752)cGg>cCg	p.R584P	PIF1_uc002anr.2_Missense_Mutation_p.R132P|PIF1_uc002ans.2_Missense_Mutation_p.R275P|PIF1_uc010uiq.1_Missense_Mutation_p.R584P	NM_025049	NP_079325	Q9H611	PIF1_HUMAN	Homo sapiens PIF1 5'-to-3' DNA helicase homolog (S. cerevisiae) (PIF1), mRNA.	584	Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity.				negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding			kidney(1)|lung(1)	2						GCTGCGGGCCCGAGAAAGGGC	0.642000														56			13		0	0	0.000151284	0	0
CHD5	26038	broad.mit.edu	37	1	6181563	6181563	+	Silent	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr1:6181563C>T	uc001amb.2	-	31	4881	c.4770G>A	c.(4768-4770)ctG>ctA	p.L1590L	CHD5_uc001alz.2_Silent_p.L447L|CHD5_uc001ama.2_Non-coding_Transcript|CHD5_uc001amc.1_Non-coding_Transcript	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	1590					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CCTGGACTTCCAGGGGCTGCC	0.587000														6			19		0	0	0.000175454	0	0
BMP5	653	broad.mit.edu	37	6	55625290	55625290	+	Missense_Mutation	SNP	C	T	T	rs147691986		TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr6:55625290C>T	uc003pcq.3	-	4	1781	c.1069G>A	c.(1069-1071)Gaa>Aaa	p.E357K	BMP5_uc011dxf.2_Missense_Mutation_p.E357K	NM_021073	NP_066551	P22003	BMP5_HUMAN	Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA.	357					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			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)			ACATAGAGTTCGTGCTTCTTA	0.348000														11			19		0	0	0.000175454	0	0
ZFP90	146198	broad.mit.edu	37	16	68597607	68597607	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr16:68597607G>A	uc010cff.3	+	4	1209	c.917G>A	c.(916-918)gGa>gAa	p.G306E	ZFP90_uc002ewb.3_Missense_Mutation_p.E112K|ZFP90_uc002ewc.3_Missense_Mutation_p.E112K|ZFP90_uc002ewd.3_Missense_Mutation_p.G306E|ZFP90_uc002ewe.3_Missense_Mutation_p.G306E	NM_133458	NP_597715	Q8TF47	ZFP90_HUMAN	Homo sapiens zinc finger protein 90 homolog (mouse) (ZFP90), mRNA.	306					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		GCTCATACCGGAGAGAAACCC	0.493000														20			15		0	0	0.000132079	0	0
LRP1B	53353	broad.mit.edu	37	2	141460004	141460004	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr2:141460004C>T	uc002tvj.1	-	37	7114	c.6142G>A	c.(6142-6144)Gac>Aac	p.D2048N		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	2048					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)		ACCTCATAGTCGATGGAGATG	0.398000										TSP Lung(27;0.18)				15			4		0	0	0.00024832	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140710468	140710468	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr5:140710468C>T	uc003lji.2	+	0	217	c.217C>T	c.(217-219)Ccg>Tcg	p.P73S	PCDHGC5_uc011dan.2_Missense_Mutation_p.P73S	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.	73	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTAGGATGCCGCTTTTCGC	0.587000														46			48		0	0	0.000781405	0	0
PCK1	5105	broad.mit.edu	37	20	56139563	56139563	+	Silent	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr20:56139563G>A	uc002xyn.4	+	7	1375	c.1212G>A	c.(1210-1212)tcG>tcA	p.S404S	PCK1_uc010zzm.2_Silent_p.S87S	NM_002591	NP_002582	P35558	PCKGC_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA.	404	Substrate binding.				gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	GTP binding|carboxylic acid binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			ACCCCAACTCGAGGTTCTGCA	0.587000														94			37		0	0	0.00111076	0	0
NYAP2	57624	broad.mit.edu	37	2	226446804	226446804	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr2:226446804G>A	uc002voe.2	+	3	846	c.671G>A	c.(670-672)cGg>cAg	p.R224Q	NYAP2_uc010fxa.1_Intron|NYAP2_uc002vof.1_5'UTR	NM_020864	NP_065915	Q9P242	K1486_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA.	224																	TCGCTGCCGCGGGACTCCTCC	0.592000														298			32		0	0	0.000409698	0	0
DMBT1	1755	broad.mit.edu	37	10	124395627	124395627	+	Silent	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr10:124395627C>T	uc001lgk.1	+	49	6388	c.6282C>T	c.(6280-6282)ttC>ttT	p.F2094F	DMBT1_uc001lgl.1_Silent_p.F2084F|DMBT1_uc001lgm.1_Silent_p.F1466F|DMBT1_uc021qaf.1_Silent_p.F2094F|DMBT1_uc021qag.1_Silent_p.F2084F|DMBT1_uc021qah.1_Silent_p.F1466F|DMBT1_uc009xzz.1_Silent_p.F2093F|DMBT1_uc010qtx.1_Silent_p.F814F|DMBT1_uc009yab.1_Silent_p.F797F|DMBT1_uc009yac.1_Silent_p.F388F	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	2094	CUB 2.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CCTCCAACTTCATGTCCATTC	0.512000														17			18		0	0	0.000566183	0	0
CDH18	1016	broad.mit.edu	37	5	19483644	19483644	+	Silent	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr5:19483644G>A	uc003jgd.3	-	11	2182	c.1648C>T	c.(1648-1650)Ctg>Ttg	p.L550L	CDH18_uc011cnm.2_Intron|CDH18_uc003jgc.3_Silent_p.L550L|CDH18_uc021xwu.1_Intron	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	550	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CGCCTTGTCAGAATGCTGGCT	0.428000														60			35		0	0	0.000228196	0	0
NCR1	9437	broad.mit.edu	37	19	55417933	55417933	+	Silent	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr19:55417933G>A	uc002qib.2	+	2	161	c.123G>A	c.(121-123)aaG>aaA	p.K41K	NCR1_uc002qic.2_Silent_p.K41K|NCR1_uc002qie.2_Silent_p.K41K|NCR1_uc002qid.2_Intron|NCR1_uc002qif.2_Intron|NCR1_uc010esj.2_Intron	NM_004829	NP_004820	O76036	NCTR1_HUMAN	Homo sapiens natural cytotoxicity triggering receptor 1 (NCR1), transcript variant 1, mRNA.	41	Ig-like 1.				cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	SWI/SNF complex|integral to plasma membrane	receptor activity|receptor signaling protein activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		TGGTTCCAAAGGAAAAGCAAG	0.542000														64			17		0	0	0.000958276	0	0
C7orf34	135927	broad.mit.edu	37	7	142637616	142637616	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr7:142637616G>A	uc003wca.2	+	1	427	c.386G>A	c.(385-387)gGa>gAa	p.G129E		NM_178829	NP_849151	Q96L11	CG034_HUMAN	Homo sapiens chromosome 7 open reading frame 34 (C7orf34), mRNA.	104						extracellular region				large_intestine(1)|lung(4)	5	Melanoma(164;0.059)					GTTTTCTCAGGAGGGCCATTG	0.542000														106			53		0	0	0.000781405	0	0
DNAH17	8632	broad.mit.edu	37	17	76458971	76458971	+	Silent	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr17:76458971C>T	uc010dhp.2	-	56	9254	c.9129G>A	c.(9127-9129)gaG>gaA	p.E3043E	DNAH17_uc002jvs.3_Non-coding_Transcript	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TCTCCAGCCTCTCGATTTTGG	0.582000														75			22		0	0	0.000375601	0	0
SDR16C5	195814	broad.mit.edu	37	8	57228829	57228829	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr8:57228829C>T	uc010lyk.1	-	1	716	c.78G>A	c.(76-78)atG>atA	p.M26I	SDR16C5_uc003xsy.1_Missense_Mutation_p.M26I|SDR16C5_uc010lyl.1_Missense_Mutation_p.M26I	NM_138969	NP_620419	Q8N3Y7	RDHE2_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 16C, member 5 (SDR16C5), mRNA.	26					detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						AGGCAAAAATCATAGCCTCCA	0.448000														32			22		0	0	0.000295444	0	0
RAPGEF6	51735	broad.mit.edu	37	5	131039813	131039813	+	Missense_Mutation	SNP	G	A	A	rs13177318		TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr5:131039813G>A	uc003kvs.1	-	9	1203	c.1061C>T	c.(1060-1062)tCa>tTa	p.S354L	RAPGEF6_uc003kvp.2_Intron|RAPGEF6_uc003kvt.1_Missense_Mutation_p.S326L|RAPGEF6_uc010jdm.1_Missense_Mutation_p.S309L|RAPGEF6_uc003kvu.3_Missense_Mutation_p.S354L	NM_133372	NP_588613	Q8TEU7	RPGF6_HUMAN	Homo sapiens folliculin interacting protein 1 (FNIP1), transcript variant 1, mRNA.	0					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|Ras GTPase binding|guanyl-nucleotide exchange factor activity	p.A354S(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		AGGAAAATGTGAAAAAAAGAA	0.289000														18			27		0	0	0.000227799	0	0
MYB	4602	broad.mit.edu	37	6	135521533	135521533	+	Missense_Mutation	SNP	C	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr6:135521533C>A	uc003qfh.3	+	12	2129	c.1930C>A	c.(1930-1932)Ctg>Atg	p.L644M	MYB_uc003qfp.3_Non-coding_Transcript|MYB_uc003qfn.3_Non-coding_Transcript|MYB_uc003qfk.3_Non-coding_Transcript|MYB_uc003qfc.3_Missense_Mutation_p.L523M|MYB_uc003qfr.3_Non-coding_Transcript|MYB_uc003qft.3_Non-coding_Transcript|MYB_uc003qfs.3_Missense_Mutation_p.L149M|MYB_uc003qfw.3_Missense_Mutation_p.L335M|MYB_uc010kgi.3_Missense_Mutation_p.L523M|MYB_uc003qfq.3_Missense_Mutation_p.L641M|MYB_uc010kgj.3_Missense_Mutation_p.L488M|MYB_uc003qfo.3_Missense_Mutation_p.L438M|MYB_uc003qfu.3_Missense_Mutation_p.L520M|MYB_uc003qfy.3_Non-coding_Transcript|MYB_uc003qfl.3_Non-coding_Transcript|MYB_uc003qfv.3_Non-coding_Transcript|MYB_uc003qfz.3_Non-coding_Transcript|MYB_uc003qfx.3_Non-coding_Transcript|MYB_uc003qga.3_Non-coding_Transcript|MYB_uc003qgb.3_Non-coding_Transcript|MYB_uc010kgk.3_Non-coding_Transcript|MYB_uc003qfd.3_Non-coding_Transcript|MYB_uc003qfi.3_Missense_Mutation_p.L628M|MYB_uc003qfe.3_Non-coding_Transcript|MYB_uc003qfg.3_Non-coding_Transcript|MYB_uc003qff.3_Non-coding_Transcript|MYB_uc003qfj.3_Non-coding_Transcript|MYB_uc003qfm.3_Non-coding_Transcript|MYB_uc003qgc.3_Non-coding_Transcript|MYB_uc003qfb.1_Missense_Mutation_p.L523M	NM_001130173	NP_001123645	P10242	MYB_HUMAN	Homo sapiens v-myb myeloblastosis viral oncogene homolog (avian) (MYB), transcript variant 1, mRNA.	538					blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of T-helper cell differentiation|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		ACCACCCTTACTGAAGAAAAT	0.443000			T	NFIB	adenoid cystic carcinoma									35			18		2.35188e-11	2.42733e-10	0.00074312	1	0
ISX	91464	broad.mit.edu	37	22	35481636	35481636	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr22:35481636C>T	uc003anj.3	+	3	1639	c.688C>T	c.(688-690)Ctt>Ttt	p.L230F		NM_001008494	NP_001008494	Q2M1V0	ISX_HUMAN	Homo sapiens intestine-specific homeobox (ISX), mRNA.	230						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						GCTATGCATCCTTCCACCTCC	0.552000														49			87		0	0	0.000781405	0	0
ZNF862	643641	broad.mit.edu	37	7	149543277	149543277	+	Silent	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr7:149543277C>T	uc010lpn.3	+	2	366	c.174C>T	c.(172-174)ttC>ttT	p.F58F		NM_001099220	NP_001092690	O60290	ZN862_HUMAN	Homo sapiens zinc finger protein 862 (ZNF862), mRNA.	58	KRAB 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						TCCGCAAGTTCGGACGAGGGC	0.557000														27			15		0	0	0.00074312	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110509206	110509206	+	Silent	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr8:110509206G>A	uc003yne.3	+	63	10490	c.10386G>A	c.(10384-10386)ggG>ggA	p.G3462G		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	3462					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GTTTATATGGGATCTATATGA	0.383000										HNSCC(38;0.096)				64			50		0	0	0.000781405	0	0
RBM26	64062	broad.mit.edu	37	13	79929422	79929422	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr13:79929422T>A	uc001vkz.2	-	11	1816	c.1802A>T	c.(1801-1803)aAt>aTt	p.N601I	RBM26_uc001vky.2_Missense_Mutation_p.N596I|RBM26_uc001vla.2_Missense_Mutation_p.N596I|RBM26_uc001vkx.2_Missense_Mutation_p.N308I|RBM26_uc010tia.2_5'Flank	NM_022118	NP_071401	Q5T8P6	RBM26_HUMAN	Homo sapiens RNA binding motif protein 26 (RBM26), mRNA.	596	RRM 1.				mRNA processing		RNA binding|nucleotide binding|protein binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		AATAAAGCGATTGTTTAATAC	0.388000														19			17		0	0	0.000175454	0	0
IGLL5	100423062	broad.mit.edu	37	22	23237605	23237605	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr22:23237605G>A	uc021wmq.1	+	2	653	c.379G>A	c.(379-381)Gag>Aag	p.E127K	abParts_uc021wml.1_Non-coding_Transcript|abParts_uc021wmm.1_Intron|IGLL5_uc011aiw.2_Missense_Mutation_p.E126K|IGLL5_uc010gtu.2_Non-coding_Transcript|IGLL5_uc021wmr.1_Non-coding_Transcript	NM_001178126	NP_001171597	B9A064	IGLL5_HUMAN	Homo sapiens immunoglobulin lambda-like polypeptide 5 (IGLL5), transcript variant 1, mRNA.	126	C region (By similarity to lambda light- chain).|Ig-like C1-type.					extracellular region		p.L127F(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						CTCCTCTGAGGAGCTCCAAGC	0.612000														36			17		0	0	0.00074312	0	0
BTN1A1	696	broad.mit.edu	37	6	26509343	26509343	+	Missense_Mutation	SNP	G	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr6:26509343G>T	uc003nif.4	+	6	1579	c.1522G>T	c.(1522-1524)Gat>Tat	p.D508Y		NM_001732	NP_001723	Q13410	BT1A1_HUMAN	Homo sapiens butyrophilin, subfamily 1, member A1 (BTN1A1), mRNA.	508						extracellular region|integral to plasma membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						TGCCCCTAGGGATGCAGACAC	0.522000														94			10		0.00010058	0.00101766	0.00010058	1	0
MUC16	94025	broad.mit.edu	37	19	9083846	9083846	+	Missense_Mutation	SNP	G	C	C			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr19:9083846G>C	uc002mkp.3	-	0	8173	c.7969C>G	c.(7969-7971)Cca>Gca	p.P2657A		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2657	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.E2656D(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAACTTGTTGGCTCAGTGGCA	0.517000														26			11		0	0	0.000151284	0	0
SLC3A1	6519	broad.mit.edu	37	2	44539728	44539728	+	Missense_Mutation	SNP	G	A	A	rs139377923		TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr2:44539728G>A	uc002ruc.4	+	7	1414	c.1336G>A	c.(1336-1338)Ggt>Agt	p.G446S	SLC3A1_uc002rtz.2_Missense_Mutation_p.G446S|SLC3A1_uc002rua.3_Missense_Mutation_p.G446S|SLC3A1_uc002rub.2_Missense_Mutation_p.G446S|SLC3A1_uc002rud.4_Missense_Mutation_p.G168S|SLC3A1_uc002rue.4_Missense_Mutation_p.G66S	NM_000341	NP_000332	Q07837	SLC31_HUMAN	Homo sapiens solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1 (SLC3A1), mRNA.	446					carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	L-cystine transmembrane transporter activity|basic amino acid transmembrane transporter activity|catalytic activity|cation binding			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)	CTTTCAGATTGGTGGACCAGA	0.403000														25			64		0	0	0.000781405	0	0
AKAP6	9472	broad.mit.edu	37	14	33292161	33292161	+	Silent	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr14:33292161G>A	uc001wrq.3	+	12	5312	c.5142G>A	c.(5140-5142)tcG>tcA	p.S1714S		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA.	1714					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TCCCGGAATCGAATGCATCGT	0.468000														22			42		0	0	0.000781405	0	0
TBC1D1	23216	broad.mit.edu	37	4	38091574	38091574	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr4:38091574T>A	uc003gtb.3	+	12	2430	c.2072T>A	c.(2071-2073)cTt>cAt	p.L691H	TBC1D1_uc011byd.2_Missense_Mutation_p.L785H|TBC1D1_uc010ifd.3_Missense_Mutation_p.L478H|TBC1D1_uc011byf.1_Missense_Mutation_p.L562H	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN	Homo sapiens TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 (TBC1D1), transcript variant 1, mRNA.	691						nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						CTGGGAGAGCTTCCCCCACGA	0.473000														20			93		0	0	0.000781405	0	0
PREX2	80243	broad.mit.edu	37	8	68995569	68995569	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr8:68995569C>T	uc003xxv.1	+	17	2000	c.1973C>T	c.(1972-1974)tCg>tTg	p.S658L	PREX2_uc003xxu.1_Missense_Mutation_p.S658L|PREX2_uc011lez.1_Missense_Mutation_p.S593L	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	658	PDZ 1.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			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						TTCCTGAAATCGTGTTTAAAC	0.353000														42			31		0	0	0.000692331	0	0
POU1F1	5449	broad.mit.edu	37	3	87309110	87309110	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr3:87309110T>G	uc010hoj.1	-	5	1013	c.888A>C	c.(886-888)aaA>aaC	p.K296N	POU1F1_uc003dqq.1_Missense_Mutation_p.K270N	NM_001122757	NP_001116229	P28069	PIT1_HUMAN	Homo sapiens POU class 1 homeobox 1 (POU1F1), transcript variant beta, mRNA.	270					negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(2)	18	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677)		TTTTCACCCGTTTTTCTCTCT	0.373000														30			16		0	0	0.000958276	0	0
CD300A	11314	broad.mit.edu	37	17	72477958	72477958	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr17:72477958G>A	uc002jkv.3	+	5	1081	c.760G>A	c.(760-762)Gaa>Aaa	p.E254K	CD300A_uc002jkw.3_Missense_Mutation_p.E141K|CD300A_uc010dfr.3_Intron|CD300A_uc010dfs.3_Missense_Mutation_p.E58K	NM_007261	NP_009192	Q9UGN4	CLM8_HUMAN	Homo sapiens CD300a molecule (CD300A), mRNA.	254					cell adhesion	integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						GGTGGAGGTGGAATACAGCAC	0.632000														10			12		0	0	0.00010058	0	0
PPP3CA	5530	broad.mit.edu	37	4	101961690	101961690	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr4:101961690C>T	uc011cen.1	-	10	1865	c.1190G>A	c.(1189-1191)aGg>aAg	p.R397K	PPP3CA_uc003hvu.2_Missense_Mutation_p.R397K|PPP3CA_uc010ilj.2_Missense_Mutation_p.R355K|PPP3CA_uc003hvt.2_Missense_Mutation_p.R384K|PPP3CA_uc003hvs.2_Missense_Mutation_p.R330K|PPP3CA_uc010ilk.2_Missense_Mutation_p.R165K	NM_000944	NP_000935	Q08209	PP2BA_HUMAN	Homo sapiens protein phosphatase 3, catalytic subunit, alpha isozyme (PPP3CA), transcript variant 1, mRNA.	397	Calmodulin-binding (Potential).				protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		GATCTTGTTCCTTATCACCTC	0.393000														29			8		0	0	0.000274275	0	0
PTK2B	2185	broad.mit.edu	37	8	27295002	27295002	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr8:27295002C>T	uc003xfn.2	+	21	2324	c.1516C>T	c.(1516-1518)Ccc>Tcc	p.P506S	PTK2B_uc022ate.1_Missense_Mutation_p.P506S|PTK2B_uc003xfp.2_Missense_Mutation_p.P506S|PTK2B_uc003xfq.2_Missense_Mutation_p.P506S|PTK2B_uc003xfr.1_Missense_Mutation_p.P252S	NM_173174	NP_775268	Q14289	FAK2_HUMAN	Homo sapiens PTK2B protein tyrosine kinase 2 beta (PTK2B), transcript variant 1, mRNA.	506	Protein kinase.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		GGAATTGTATCCCTATGGGGA	0.562000														14			12		0	0	0.000219431	0	0
IFITM3	10410	broad.mit.edu	37	11	320742	320742	+	Silent	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr11:320742C>T	uc001lpa.2	-	0	173	c.72G>A	c.(70-72)aaG>aaA	p.K24K	BC040735_uc001loz.3_Intron	NM_021034	NP_066362	Q01628	IFM3_HUMAN	Homo sapiens interferon induced transmembrane protein 3 (IFITM3), mRNA.	24					response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane				central_nervous_system(7)|endometrium(7)|kidney(2)|large_intestine(1)|lung(1)	18		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		CGTGCTCCTCCTTGAGCATCT	0.632000														63			52		0	0	0.000781405	0	0
SDK1	221935	broad.mit.edu	37	7	4150372	4150372	+	Missense_Mutation	SNP	G	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr7:4150372G>T	uc003smx.3	+	22	3541	c.3402G>T	c.(3400-3402)gaG>gaT	p.E1134D	SDK1_uc010kso.3_Missense_Mutation_p.E410D	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	1134	Fibronectin type-III 5.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		AGATGCTGGAGATCCCAAACC	0.557000														45			20		5.45024e-15	5.63922e-14	0.00047179	1	0
SCN9A	6335	broad.mit.edu	37	2	167134676	167134676	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr2:167134676A>C	uc010fpl.3	-	14	2799	c.2458T>G	c.(2458-2460)Ttg>Gtg	p.L820V	BC051759_uc002udp.3_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	831						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.G819*(1)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	AGAACTGACAATCCTTCCACA	0.343000														26			7		0	0	0.000442599	0	0
PDZD7	79955	broad.mit.edu	37	10	102789856	102789856	+	Missense_Mutation	SNP	G	C	C			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr10:102789856G>C	uc001ksn.3	-	1	371	c.121C>G	c.(121-123)Cga>Gga	p.R41G	PDZD7_uc021pxc.1_Missense_Mutation_p.R41G|PDZD7_uc001kso.2_Missense_Mutation_p.R41G|SFXN3_uc001ksp.3_5'Flank|SFXN3_uc010qpx.2_5'Flank	NM_024895	NP_079171	Q9H5P4	PDZD7_HUMAN	Homo sapiens PDZ domain containing 7 (PDZD7), transcript variant 2, mRNA.	41						cilium|nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		AGCAGGTATCGCGTTGCGGTG	0.652000														49			12		0	0	0.000151284	0	0
DYNC2H1	79659	broad.mit.edu	37	11	102988580	102988580	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr11:102988580A>T	uc001phn.1	+	5	1131	c.987A>T	c.(985-987)aaA>aaT	p.K329N	DYNC2H1_uc009yxe.1_Missense_Mutation_p.K329N|DYNC2H1_uc001pho.2_Missense_Mutation_p.K329N	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	329	Stem (By similarity).				Golgi organization|cell projection organization|microtubule-based movement|multicellular organismal development	Golgi apparatus|cilium axoneme|dynein complex|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AACTTGGCAAACGCCTTGAAG	0.333000														26			8		0	0	0.000157383	0	0
MFSD6L	162387	broad.mit.edu	37	17	8702360	8702360	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr17:8702360C>T	uc002glp.2	-	0	308	c.79G>A	c.(79-81)Gaa>Aaa	p.E27K		NM_152599	NP_689812	Q8IWD5	MFS6L_HUMAN	Homo sapiens major facilitator superfamily domain containing 6-like (MFSD6L), mRNA.	27						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						ACGCAGGCTTCCCGCACCCCG	0.677000														5			14		0	0	0.000566183	0	0
RASA2	5922	broad.mit.edu	37	3	141295844	141295844	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr3:141295844G>A	uc010huq.1	+	14	1486	c.1486G>A	c.(1486-1488)Gac>Aac	p.D496N	RASA2_uc003etz.1_Missense_Mutation_p.D496N|RASA2_uc003eua.1_Missense_Mutation_p.D496N|RASA2_uc011bnc.1_Missense_Mutation_p.D88N	NM_006506	NP_006497	Q15283	RASA2_HUMAN	Homo sapiens RAS p21 protein activator 2 (RASA2), mRNA.	496	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	Ras GTPase activator activity|metal ion binding	p.D496D(1)		NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						TCCTGCAGATGACCCTCATGT	0.348000														83			24		0	0	0.000375601	0	0
ZDBF2	57683	broad.mit.edu	37	2	207174867	207174867	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr2:207174867G>A	uc002vbp.2	+	4	5865	c.5615G>A	c.(5614-5616)gGg>gAg	p.G1872E		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	1872							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TCTTCGAAGGGGAAAAAAAAG	0.418000														17			5		0	0	3.59834e-05	0	0
KRT2	3849	broad.mit.edu	37	12	53045889	53045889	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr12:53045889C>T	uc001sat.3	-	0	71	c.38G>A	c.(37-39)gGa>gAa	p.G13E		NM_000423	NP_000414	P35908	K22E_HUMAN	Homo sapiens keratin 2 (KRT2), mRNA.	13	Head.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		tccacctcctcctcttcctcG	0.552000														8			3		0	0	0.00024832	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101748766	101748766	+	Silent	SNP	T	G	G			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr5:101748766T>G	uc003knn.3	-	8	1726	c.1554A>C	c.(1552-1554)ggA>ggC	p.G518G	SLCO6A1_uc003kno.3_Silent_p.G265G|SLCO6A1_uc003knp.3_Silent_p.G518G|SLCO6A1_uc003knq.3_Silent_p.G456G	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	518	Kazal-like.					integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TATCATCTCTTCCACATATAG	0.313000														19			15		0	0	0.000308642	0	0
NAV1	89796	broad.mit.edu	37	1	201750396	201750396	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr1:201750396C>T	uc021phi.1	+	4	1969	c.1622C>T	c.(1621-1623)tCc>tTc	p.S541F	NAV1_uc001gwu.3_Missense_Mutation_p.S541F|NAV1_uc001gwv.1_Missense_Mutation_p.S49F|NAV1_uc001gww.2_Missense_Mutation_p.S150F|NAV1_uc001gwx.3_Missense_Mutation_p.S150F|NAV1_uc001gwy.1_5'Flank	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	Homo sapiens neuron navigator 1 (NAV1), transcript variant 1, mRNA.	541					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						GCTGTAACTTCCCCCATCACT	0.537000														24			5		0	0	0.000602214	0	0
OR2T33	391195	broad.mit.edu	37	1	248436865	248436865	+	Silent	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr1:248436865C>T	uc010pzi.2	-	0	252	c.252G>A	c.(250-252)ttG>ttA	p.L84L		NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 33 (OR2T33), mRNA.	84					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)			TACTTCCGGTCAAGTAGTCAG	0.577000														114			35		0	0	0.000953801	0	0
PDZRN4	29951	broad.mit.edu	37	12	41967311	41967311	+	Missense_Mutation	SNP	C	G	G			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr12:41967311C>G	uc010skn.2	+	9	2738	c.2730C>G	c.(2728-2730)atC>atG	p.I910M	PDZRN4_uc001rmq.4_Missense_Mutation_p.I652M|PDZRN4_uc009zjz.3_Missense_Mutation_p.I650M|PDZRN4_uc001rmr.3_Missense_Mutation_p.I537M	NM_001164595	NP_001158067	Q6ZMN7	PZRN4_HUMAN	Homo sapiens PDZ domain containing ring finger 4 (PDZRN4), transcript variant 1, mRNA.	910							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				GAGACCGAATCCTGAAGGAAC	0.517000														29			19		0	0	0.00074312	0	0
RELN	5649	broad.mit.edu	37	7	103175777	103175777	+	Silent	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr7:103175777G>A	uc022ajr.1	-	45	7495	c.7335C>T	c.(7333-7335)ctC>ctT	p.L2445L	RELN_uc022ajq.1_Silent_p.L2445L|RELN_uc010liz.3_Silent_p.L2445L	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	2445					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TATAAGGAGGGAGAGGCAGAG	0.453000														18			9		0	0	0.000978159	0	0
PCLO	27445	broad.mit.edu	37	7	82585181	82585181	+	Silent	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr7:82585181C>T	uc003uhx.2	-	4	5377	c.5088G>A	c.(5086-5088)gaG>gaA	p.E1696E	PCLO_uc003uhv.2_Silent_p.E1696E	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1627					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						CCAATTCTGGCTCTTCGTCAA	0.428000														27			14		0	0	0.000219431	0	0
MUC16	94025	broad.mit.edu	37	19	9084638	9084638	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr19:9084638G>A	uc002mkp.3	-	0	7381	c.7177C>T	c.(7177-7179)Ccc>Tcc	p.P2393S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2393	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATGCTAGTGGGACTGATGGAG	0.463000														29			13		0	0	0.00010058	0	0
OR52E2	119678	broad.mit.edu	37	11	5080763	5080763	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr11:5080763G>A	uc010qyw.2	-	0	95	c.95C>T	c.(94-96)cCc>cTc	p.P32L		NM_001005164	NP_001005164	Q8NGJ4	O52E2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 2 (OR52E2), mRNA.	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		AGCACAGAAGGGAAAGCCGAT	0.502000														14			20		0	0	0.000175454	0	0
MYB	4602	broad.mit.edu	37	6	135516936	135516936	+	Silent	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr6:135516936C>T	uc003qfh.3	+	8	1198	c.999C>T	c.(997-999)gcC>gcT	p.A333A	MYB_uc003qfp.3_Non-coding_Transcript|MYB_uc003qfn.3_Non-coding_Transcript|MYB_uc003qfk.3_Non-coding_Transcript|MYB_uc003qfc.3_Silent_p.A333A|MYB_uc003qfr.3_Non-coding_Transcript|MYB_uc003qft.3_Non-coding_Transcript|MYB_uc003qfs.3_5'UTR|MYB_uc003qfw.3_Silent_p.A145A|MYB_uc010kgi.3_Silent_p.A333A|MYB_uc003qfq.3_Silent_p.A330A|MYB_uc010kgj.3_Silent_p.A298A|MYB_uc003qfo.3_Intron|MYB_uc003qfu.3_Silent_p.A330A|MYB_uc003qfy.3_Non-coding_Transcript|MYB_uc003qfl.3_Non-coding_Transcript|MYB_uc003qfv.3_Non-coding_Transcript|MYB_uc003qfz.3_Non-coding_Transcript|MYB_uc003qfx.3_Non-coding_Transcript|MYB_uc003qga.3_Non-coding_Transcript|MYB_uc003qgb.3_Non-coding_Transcript|MYB_uc010kgk.3_Non-coding_Transcript|MYB_uc003qfd.3_Non-coding_Transcript|MYB_uc003qfi.3_Silent_p.A333A|MYB_uc003qfe.3_Non-coding_Transcript|MYB_uc003qfg.3_Non-coding_Transcript|MYB_uc003qff.3_Non-coding_Transcript|MYB_uc003qfj.3_Intron|MYB_uc003qfm.3_Non-coding_Transcript|MYB_uc003qgc.3_Non-coding_Transcript|MYB_uc003qfb.1_Silent_p.A333A|MYB_uc003qge.1_Non-coding_Transcript	NM_001130173	NP_001123645	P10242	MYB_HUMAN	Homo sapiens v-myb myeloblastosis viral oncogene homolog (avian) (MYB), transcript variant 1, mRNA.	333	Negative regulatory domain (By similarity).				blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of T-helper cell differentiation|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		CCACCATTGCCGACCACACCA	0.552000			T	NFIB	adenoid cystic carcinoma									51			12		0	0	0.00010058	0	0
MAMDC2	256691	broad.mit.edu	37	9	72723222	72723222	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr9:72723222C>T	uc004ahm.2	+	2	861	c.244C>T	c.(244-246)Cgt>Tgt	p.R82C	MAMDC2_uc004ahn.2_Non-coding_Transcript	NM_153267	NP_694999	Q7Z304	MAMC2_HUMAN	Homo sapiens MAM domain containing 2 (MAMDC2), mRNA.	82	MAM 1.					endoplasmic reticulum|membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						GAGCTGCCTCCGTTTGGTCTA	0.493000														6			25		0	0	0.000878237	0	0
FN1	2335	broad.mit.edu	37	2	216289995	216289995	+	Silent	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr2:216289995G>A	uc002vfa.3	-	6	1124	c.858C>T	c.(856-858)ttC>ttT	p.F286F	FN1_uc002vfc.3_Silent_p.F286F|FN1_uc002vfe.3_Silent_p.F286F|FN1_uc002vff.3_Silent_p.F286F|FN1_uc002vfg.3_Silent_p.F286F|FN1_uc002vfh.3_Silent_p.F286F|FN1_uc002vfi.3_Silent_p.F286F|FN1_uc002vfj.3_Silent_p.F286F|FN1_uc002vfb.3_Silent_p.F286F|FN1_uc002vfl.3_Silent_p.F286F	NM_212482	NP_997647	P02751	FINC_HUMAN	Homo sapiens fibronectin 1 (FN1), transcript variant 1, mRNA.	286					acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GAACATCGGTGAAGGGGCCAG	0.522000														48			139		0	0	0.000781405	0	0
DNAH10	196385	broad.mit.edu	37	12	124330680	124330680	+	Silent	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr12:124330680G>A	uc001uft.4	+	30	5464	c.5439G>A	c.(5437-5439)cgG>cgA	p.R1813R		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	1813	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TCACCGATCGGATTTACCTGA	0.582000														23			7		0	0	0.000157383	0	0
BCLAF1	9774	broad.mit.edu	37	6	136599030	136599030	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr6:136599030G>A	uc003qgx.1	-	3	1242	c.989C>T	c.(988-990)aCt>aTt	p.T330I	BCLAF1_uc003qgy.1_Missense_Mutation_p.T328I|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.T328I|BCLAF1_uc003qgw.1_Missense_Mutation_p.T330I	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	330					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		AGTCTTTGCAGTTTCCTGATC	0.378000														37			5		0	0	3.59834e-05	0	0
PAPD7	11044	broad.mit.edu	37	5	6746348	6746349	+	Missense_Mutation	DNP	CG	AT	AT	rs138124674		TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr5:6746348_6746349CG>AT	uc003jdx.1	+	6	646_647	c.517_518CG>AT	c.(517-519)cgg>ATg	p.R173M	PAPD7_uc011cmn.2_Missense_Mutation_p.R173M|PAPD7_uc010itl.1_5'UTR	NM_006999	NP_001165277	Q5XG87	PAPD7_HUMAN	Homo sapiens PAP associated domain containing 7 (PAPD7), transcript variant 1, mRNA.	173					DNA replication|cell division|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|SMC protein binding|metal ion binding			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						AATTGATGCCCGGAGAGCTGAT	0.381000											OREG0016494	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		119			6		0	0	6.4e-05	0	0
TRANK1	9881	broad.mit.edu	37	3	36898030	36898030	+	Silent	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr3:36898030C>T	uc003cgj.3	-	11	3299	c.3051G>A	c.(3049-3051)gtG>gtA	p.V1017V		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	1017					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TGAGGTCGATCACCGCGTACT	0.537000														80			55		0	0	0.000781405	0	0
TAF1L	138474	broad.mit.edu	37	9	32633448	32633448	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr9:32633448C>T	uc003zrg.1	-	0	2220	c.2130G>A	c.(2128-2130)atG>atA	p.M710I	AX747113_uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	710					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CAACCTGCATCATTAAGGGTC	0.418000														52			46		0	0	0.000781405	0	0
DACH1	1602	broad.mit.edu	37	13	72440119	72440119	+	Silent	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr13:72440119C>T	uc021rkj.1	-	0	1212	c.789G>A	c.(787-789)gtG>gtA	p.V263V	DACH1_uc021rkk.1_Silent_p.V263V|DACH1_uc021rkl.1_Silent_p.V263V	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	Homo sapiens dachshund homolog 1 (Drosophila) (DACH1), transcript variant 1, mRNA.	261	DACHbox-N.|Interaction with SIX6 and HDAC3 (By similarity).				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		TGCAGCGGTTCACTCCTGGCT	0.622000														10			17		0	0	0.000175454	0	0
CLCA2	9635	broad.mit.edu	37	1	86905984	86905984	+	Silent	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr1:86905984C>T	uc001dlr.4	+	7	1519	c.1357C>T	c.(1357-1359)Ctg>Ttg	p.L453L		NM_006536	NP_006527	Q9UQC9	CLCA2_HUMAN	Homo sapiens chloride channel accessory 2 (CLCA2), mRNA.	453	VWFA.				cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity	p.L453M(2)		NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		AGCCCCAAATCTGGAGGAATT	0.423000														22			38		0	0	0.000270559	0	0
LRCH2	57631	broad.mit.edu	37	X	114357343	114357343	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chrX:114357343G>A	uc010nqe.3	-	18	2111	c.2080C>T	c.(2080-2082)Cat>Tat	p.H694Y	LRCH2_uc004epz.3_Missense_Mutation_p.H677Y	NM_020871	NP_065922	Q5VUJ6	LRCH2_HUMAN	Homo sapiens leucine-rich repeats and calponin homology (CH) domain containing 2 (LRCH2), transcript variant 1, mRNA.	694	CH.									breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						GATGGTACATGAATACTAGCA	0.358000														6			26		0	0	0.000184323	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140389311	140389311	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr5:140389311C>T	uc003lii.3	+	3	3418	c.2813C>T	c.(2812-2814)cCc>cTc	p.P938L	PCDHAC2_uc003lha.2_Missense_Mutation_p.P617L|PCDHAC2_uc003lhb.2_Missense_Mutation_p.P881L|PCDHAC2_uc003lhd.2_Missense_Mutation_p.P879L|PCDHAC2_uc003lhf.2_Missense_Mutation_p.P881L|PCDHAC2_uc003lhh.1_Missense_Mutation_p.P878L|PCDHAC2_uc003lhi.2_Missense_Mutation_p.P878L|PCDHAC2_uc003lhl.2_Missense_Mutation_p.P867L|PCDHAC2_uc003lhk.1_Missense_Mutation_p.P867L|PCDHAC2_uc003lho.2_Missense_Mutation_p.P881L|PCDHAC2_uc003lhn.2_Missense_Mutation_p.P617L|PCDHAC2_uc003lhq.2_Missense_Mutation_p.P868L|PCDHAC2_uc003lhs.2_Missense_Mutation_p.P881L|PCDHAC2_uc003lhu.2_Missense_Mutation_p.P881L|PCDHAC2_uc003lhw.2_Missense_Mutation_p.P616L|PCDHAC2_uc003lhx.2_Missense_Mutation_p.P879L|PCDHAC2_uc003lia.2_Missense_Mutation_p.P880L|PCDHAC2_uc003lic.2_Missense_Mutation_p.P872L|PCDHAC2_uc003lif.2_Missense_Mutation_p.P881L|PCDHAC2_uc003lie.1_Missense_Mutation_p.P881L|PCDHAC2_uc003lih.2_Missense_Mutation_p.P894L	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA.	938	4 X 4 AA repeats of P-X-X-P.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAATCCGGTCCCGGTGAGTTG	0.522000														39			26		0	0	0.000878237	0	0
MED12L	116931	broad.mit.edu	37	3	151075134	151075134	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr3:151075134A>T	uc003eyp.3	+	17	2819	c.2690A>T	c.(2689-2691)aAt>aTt	p.N897I	MED12L_uc011bnz.2_Missense_Mutation_p.N757I|P2RY12_uc011boa.2_Intron|P2RY12_uc003eyx.1_Intron|MED12L_uc003eyy.1_Missense_Mutation_p.N61I	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	897					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTAATCTTGAATCCTGATCAG	0.423000														55			13		0	0	0.000308642	0	0
BTD	686	broad.mit.edu	37	3	15677086	15677086	+	Missense_Mutation	SNP	C	G	G			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr3:15677086C>G	uc011avv.2	+	1	294	c.206C>G	c.(205-207)tCc>tGc	p.S69C	BTD_uc003cah.3_Missense_Mutation_p.S67C|BTD_uc011avw.2_Missense_Mutation_p.S69C|BTD_uc011avx.2_Missense_Mutation_p.S47C	NM_000060	NP_000051	P43251	BTD_HUMAN	Homo sapiens biotinidase (BTD), mRNA.	67	CN hydrolase.				central nervous system development|epidermis development|nitrogen compound metabolic process	extracellular space	biotin carboxylase activity|biotinidase activity			breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	18						GAGCATCCATCCATCCTGAGT	0.557000														105			24		0	0	0.000586117	0	0
NBEA	26960	broad.mit.edu	37	13	35733681	35733681	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr13:35733681G>A	uc021rid.1	+	21	3907	c.3373G>A	c.(3373-3375)Gat>Aat	p.D1125N	NBEA_uc021ric.1_Missense_Mutation_p.D1125N|NBEA_uc010abi.3_5'Flank	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	1125						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TGAAGAAAAGGATAATGGTCC	0.343000														6			10		0	0	0.000978159	0	0
KIF1C	10749	broad.mit.edu	37	17	4923933	4923933	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr17:4923933G>A	uc002gan.2	+	19	2254	c.1897G>A	c.(1897-1899)Gag>Aag	p.E633K		NM_006612	NP_006603	O43896	KIF1C_HUMAN	Homo sapiens kinesin family member 1C (KIF1C), mRNA.	633					microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	Golgi apparatus|endoplasmic reticulum|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						GGAACTGCTGGAGCAGCAAGG	0.652000														8			22		0	0	0.000229342	0	0
MPHOSPH9	10198	broad.mit.edu	37	12	123645368	123645368	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr12:123645368G>A	uc001uel.3	-	18	3062	c.2954C>T	c.(2953-2955)tCt>tTt	p.S985F	MPHOSPH9_uc010tal.2_Missense_Mutation_p.S439F|MPHOSPH9_uc010tam.2_Non-coding_Transcript|MPHOSPH9_uc001uem.3_Missense_Mutation_p.S439F	NM_022782	NP_073619	Q99550	MPP9_HUMAN	Homo sapiens M-phase phosphoprotein 9 (MPHOSPH9), mRNA.	985					M phase of mitotic cell cycle	Golgi membrane|centriole				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		TCCTCCAGGAGAAGGCATCCT	0.403000														29			11		0	0	0.00010058	0	0
IDE	3416	broad.mit.edu	37	10	94267332	94267332	+	Splice_Site	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr10:94267332C>T	uc001kia.3	-	9	1321	c.1245_splice	c.e9+1	p.K415_splice		NM_004969	NP_004960	P14735	IDE_HUMAN	Homo sapiens insulin-degrading enzyme (IDE), transcript variant 1, mRNA.	415					beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ACAAAAGTACCTTGCACTCTT	0.313000														174			172		0	0	0.000781405	0	0
NBPF1	55672	broad.mit.edu	37	1	16895719	16895719	+	Silent	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr1:16895719C>T	uc009vos.1	-	22	3351	c.2463G>A	c.(2461-2463)gaG>gaA	p.E821E	NBPF1_uc009vot.1_Silent_p.E279E|NBPF1_uc001ayz.1_Silent_p.E279E|NBPF1_uc010oce.1_Silent_p.E550E	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.	821	NBPF 4.|Poly-Glu.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		CCTCTTCAGACTCCTGCAGAT	0.488000														163			11		0	0	0.000151284	0	0
VTN	7448	broad.mit.edu	37	17	26696733	26696734	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr17:26696733_26696734CC>TT	uc002hbc.3	-	2	472_473	c.323_324GG>AA	c.(322-324)ggg>gAA	p.G108E	TMEM199_uc010wah.1_Intron|SARM1_uc010waj.1_Intron|SARM1_uc010crl.1_5'Flank	NM_000638	NP_000629	P04004	VTNC_HUMAN	Homo sapiens vitronectin (VTN), mRNA.	108					cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion	alphav-beta3 integrin-vitronectin complex|extracellular space	heparin binding|integrin binding|scavenger receptor activity			kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Urokinase(DB00013)	GCTCAGGATTCCCTTTGGACTG	0.594000														14			18		0	0	6.4e-05	0	0
PKP2	5318	broad.mit.edu	37	12	32945415	32945415	+	Silent	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr12:32945415C>T	uc001rlj.4	-	13	2704	c.2589G>A	c.(2587-2589)aaG>aaA	p.K863K	PKP2_uc001rlk.4_Silent_p.K819K|PKP2_uc010skj.2_Silent_p.K816K	NM_004572	NP_004563	Q99959	PKP2_HUMAN	Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA.	863					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					AATCTGTCTTCTTAAACTGAG	0.423000														48			34		0	0	0.00111076	0	0
FAM171B	165215	broad.mit.edu	37	2	187627296	187627296	+	Silent	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr2:187627296C>T	uc002ups.3	+	7	2339	c.2227C>T	c.(2227-2229)Cta>Tta	p.L743L	FAM171B_uc002upr.1_Silent_p.L710L|FAM171B_uc002upt.3_Silent_p.L212L	NM_177454	NP_803237	Q6P995	F171B_HUMAN	Homo sapiens family with sequence similarity 171, member B (FAM171B), mRNA.	743						integral to membrane	DNA binding			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						AGATTTAGACCTAAGCAGCAG	0.488000														33			10		0	0	0.000151284	0	0
ZBBX	79740	broad.mit.edu	37	3	167023529	167023529	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr3:167023529C>T	uc011bpc.2	-	16	1964	c.1627G>A	c.(1627-1629)Gag>Aag	p.E543K	ZBBX_uc003feq.3_Missense_Mutation_p.E514K|ZBBX_uc003fep.3_Missense_Mutation_p.E543K	NM_001199201	NP_001186130	A8MT70	ZBBX_HUMAN	Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA.	543						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						AATTTCTCCTCAATGGGAGCT	0.353000														36			16		0	0	0.000422831	0	0
LRP6	4040	broad.mit.edu	37	12	12334021	12334021	+	Silent	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr12:12334021C>T	uc001rah.4	-	5	1471	c.1329G>A	c.(1327-1329)gaG>gaA	p.E443E	BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Silent_p.E443E	NM_002336	NP_002327	O75581	LRP6_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 6 (LRP6), mRNA.	443	Beta-propeller 2.				Wnt receptor signaling pathway involved in dorsal/ventral axis specification|cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	Wnt-protein binding|coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity	p.E443D(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				CCTCTAAGTCCTCTGAAATCA	0.448000														227			146		0	0	0.000781405	0	0
SDR16C5	195814	broad.mit.edu	37	8	57228744	57228744	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr8:57228744G>A	uc010lyk.1	-	1	801	c.163C>T	c.(163-165)Ctc>Ttc	p.L55F	SDR16C5_uc003xsy.1_Missense_Mutation_p.L55F|SDR16C5_uc010lyl.1_Missense_Mutation_p.L55F	NM_138969	NP_620419	Q8N3Y7	RDHE2_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 16C, member 5 (SDR16C5), mRNA.	55					detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						AAGGCTAAGAGCCTTCCGAGT	0.502000														38			26		0	0	0.00047179	0	0
C7orf43	55262	broad.mit.edu	37	7	99754797	99754797	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr7:99754797A>C	uc003utr.3	-	4	945	c.765T>G	c.(763-765)gaT>gaG	p.D255E	C7orf43_uc010lgo.3_5'Flank|C7orf43_uc010lgp.3_5'UTR|C7orf43_uc011kjj.2_Missense_Mutation_p.D23E|C7orf43_uc003uts.3_5'UTR|C7orf43_uc022aih.1_5'Flank	NM_018275	NP_060745	Q8WVR3	CG043_HUMAN	Homo sapiens chromosome 7 open reading frame 43 (C7orf43), mRNA.	255										breast(1)|endometrium(3)|large_intestine(3)|lung(2)|prostate(1)	10	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGATTCGGATATCCCAGATGG	0.577000														23			9		0	0	0.000274275	0	0
INSR	3643	broad.mit.edu	37	19	7122746	7122746	+	Missense_Mutation	SNP	C	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr19:7122746C>A	uc002mgd.1	-	18	3517	c.3408G>T	c.(3406-3408)atG>atT	p.M1136I	INSR_uc002mge.1_Missense_Mutation_p.M1124I	NM_000208	NP_000199	P06213	INSR_HUMAN	Homo sapiens insulin receptor (INSR), transcript variant 1, mRNA.	1136	Protein kinase.				G-protein coupled receptor protein signaling pathway|activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of MAPKKK cascade|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|PTB domain binding|SH2 domain binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|receptor signaling protein tyrosine kinase activity			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CCATCTGAATCATCTCTTGAA	0.572000														271			77		7.539e-32	7.8398e-31	0.000781405	1	0
CDC42EP3	10602	broad.mit.edu	37	2	37873383	37873383	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr2:37873383T>A	uc021vfz.1	-	0	348	c.348A>T	c.(346-348)caA>caT	p.Q116H	CDC42EP3_uc002rqi.1_Missense_Mutation_p.Q116H	NM_006449	NP_006440	Q9UKI2	BORG2_HUMAN	Homo sapiens CDC42 effector protein (Rho GTPase binding) 3 (CDC42EP3), mRNA.	116					regulation of cell shape|signal transduction	actin cytoskeleton|cytoplasm|endomembrane system|membrane	cytoskeletal regulatory protein binding	p.S115F(1)		endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	11		all_hematologic(82;0.172)				ACATGAGAGCTTGGGATCCTC	0.557000														88			22		0	0	0.000229342	0	0
BC087858	0	broad.mit.edu	37	6	1515378	1515378	+	Splice_Site	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr6:1515378G>A	uc003mto.3	+	4		c.598_splice	c.e4+1		DD413621_uc021ykm.1_5'Flank					Homo sapiens cDNA clone IMAGE:30390216.																		CCCTCAAGCAGGTAGGAGATT	0.478000														59			18		0	0	0.00074312	0	0
PFKFB4	5210	broad.mit.edu	37	3	48563046	48563046	+	Silent	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr3:48563046G>A	uc003ctv.3	-	9	1061	c.1044C>T	c.(1042-1044)ttC>ttT	p.F348F	PFKFB4_uc003ctx.3_Silent_p.F305F|PFKFB4_uc010hkb.3_Silent_p.F341F|PFKFB4_uc003ctw.3_Silent_p.F157F|PFKFB4_uc010hkc.3_Intron|PFKFB4_uc011bbm.2_Silent_p.F337F|PFKFB4_uc011bbn.1_Non-coding_Transcript	NM_004567	NP_004558	Q16877	F264_HUMAN	Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 (PFKFB4), mRNA.	348	Fructose-2,6-bisphosphatase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		CCCGCAGGGCGAACTCCAGTG	0.562000														20			13		0	0	0.000422831	0	0
ARNT2	9915	broad.mit.edu	37	15	80873662	80873662	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr15:80873662C>T	uc002bfr.3	+	16	2001	c.1835C>T	c.(1834-1836)tCc>tTc	p.S612F	ARNT2_uc010unm.2_Missense_Mutation_p.S601F|ARNT2_uc002bfs.3_Missense_Mutation_p.S601F	NM_014862	NP_055677	Q9HBZ2	ARNT2_HUMAN	Homo sapiens aryl-hydrocarbon receptor nuclear translocator 2 (ARNT2), mRNA.	612					central nervous system development|in utero embryonic development|response to hypoxia		DNA binding|aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			GACCCCTCTTCCTACAGCCCC	0.572000														27			38		0	0	0.000228196	0	0
LMX1A	4009	broad.mit.edu	37	1	165180005	165180005	+	Silent	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr1:165180005C>T	uc001gcz.2	-	5	872	c.678G>A	c.(676-678)gaG>gaA	p.E226E	LMX1A_uc021pdz.1_Silent_p.E226E|LMX1A_uc021pdy.1_5'UTR|LMX1A_uc001gcw.2_5'UTR	NM_001174069	NP_796372	Q8TE12	LMX1A_HUMAN	Homo sapiens LIM homeobox transcription factor 1, alpha (LMX1A), transcript variant 4, mRNA.	226						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					CAGCCAGAGTCTCTCTCACCT	0.478000														18			27		0	0	0.000184323	0	0
TPTE	7179	broad.mit.edu	37	21	11012949	11012949	+	RNA	SNP	A	G	G			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr21:11012949A>G	uc002yis.1	-	8		c.1672T>C						P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 2, mRNA.						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)		AATTTGTGCTACAAGTGAAGA	0.279000														30			10		0	0	0.000442599	0	0
TRPM6	140803	broad.mit.edu	37	9	77407629	77407629	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr9:77407629C>T	uc004ajl.1	-	18	2687	c.2449G>A	c.(2449-2451)Ggt>Agt	p.G817S	TRPM6_uc004ajk.1_Missense_Mutation_p.G812S|TRPM6_uc022bib.1_Missense_Mutation_p.G812S|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	817					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CTTTCCAAACCAAAATGCTGA	0.388000														13			26		0	0	0.000878237	0	0
RNF112	7732	broad.mit.edu	37	17	19315925	19315926	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr17:19315925_19315926GG>AT	uc010vyw.2	+	2	441_442	c.210_211GG>AT	c.(208-213)ctggac>ctATac	p.D71Y	RNF112_uc010vyu.2_Missense_Mutation_p.D71Y|RNF112_uc021tsa.1_Non-coding_Transcript|RNF112_uc010vyx.1_Missense_Mutation_p.D23Y	NM_007148	NP_009079	Q7Z5V9	Q7Z5V9_HUMAN	Homo sapiens ring finger protein 112 (RNF112), mRNA.	71							GTP binding|GTPase activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						CCATCTCGCTGGACTGTGGCCA	0.649000														4			12		0	0	6.4e-05	0	0
LOC100132352	100132352	broad.mit.edu	37	9	68728861	68728861	+	RNA	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr9:68728861G>A	uc022bhu.1	+	2		c.646G>A			LOC100132352_uc010mnp.2_Non-coding_Transcript					Homo sapiens FSHD region gene 1 pseudogene (LOC100132352), non-coding RNA.																		gcaaagataagaagagaaaaa	0.284000														49			8		0	0	0.000442599	0	0
SMC1B	27127	broad.mit.edu	37	22	45785651	45785651	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr22:45785651G>A	uc003bgc.3	-	9	1724	c.1672C>T	c.(1672-1674)Cga>Tga	p.R558*	SMC1B_uc003bgd.3_Nonsense_Mutation_p.R558*|SMC1B_uc003bge.1_Nonsense_Mutation_p.R341*	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN	Homo sapiens structural maintenance of chromosomes 1B (SMC1B), mRNA.	558	Flexible hinge.				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TTCAGAAATCGAATACAATCT	0.388000														76			126		0	0	0.000781405	0	0
RFX7	64864	broad.mit.edu	37	15	56386859	56386859	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr15:56386859G>A	uc010bfn.3	-	8	3067	c.3067C>T	c.(3067-3069)Ccg>Tcg	p.P1023S	RFX7_uc010ugk.1_Non-coding_Transcript|RFX7_uc002adn.1_Missense_Mutation_p.P837S	NM_022841	NP_073752	Q2KHR2	RFX7_HUMAN	Homo sapiens regulatory factor X, 7 (RFX7), mRNA.	926					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						AATGCAAACGGATTCCTGCAT	0.493000														19			13		0	0	0.00010058	0	0
NPTXR	23467	broad.mit.edu	37	22	39219117	39219117	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr22:39219117G>A	uc003awk.3	-	3	1403	c.1249C>T	c.(1249-1251)Cat>Tat	p.H417Y		NM_014293	NP_055108	O95502	NPTXR_HUMAN	Homo sapiens neuronal pentraxin receptor (NPTXR), mRNA.	417	Pentaxin.					integral to membrane	metal ion binding			central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	Melanoma(58;0.04)					AGGATCCCATGAGGCTTGATG	0.602000														70			28		0	0	0.000692331	0	0
KCNQ3	3786	broad.mit.edu	37	8	133141661	133141661	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr8:133141661C>T	uc003ytj.3	-	14	2692	c.2467G>A	c.(2467-2469)Ggg>Agg	p.G823R	KCNQ3_uc003yti.3_Missense_Mutation_p.G703R|KCNQ3_uc010mdt.3_Missense_Mutation_p.G811R	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA.	823					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.G823E(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CAGCTCGACCCCCCATTGGGG	0.612000														29			19		0	0	0.000132079	0	0
ABL1	25	broad.mit.edu	37	9	133747600	133747600	+	Splice_Site	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr9:133747600G>A	uc004bzw.3	+	5	910	c.907_splice	c.e5+1	p.G303_splice	ABL1_uc004bzv.3_Splice_Site_p.G322_splice	NM_005157	NP_005148	P00519	ABL1_HUMAN	Homo sapiens c-abl oncogene 1, non-receptor tyrosine kinase (ABL1), transcript variant a, mRNA.	303	Protein kinase.				DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|SH3 domain binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	GCAGCTCCTTGGTGAGTAAGC	0.572000			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""									7			6		0	0	8.12818e-05	0	0
AGL	178	broad.mit.edu	37	1	100353539	100353540	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr1:100353539_100353540CC>TT	uc001dsi.1	+	20	3087_3088	c.2687_2688CC>TT	c.(2686-2688)gcc>gTT	p.A896V	AGL_uc001dsj.1_Missense_Mutation_p.A896V|AGL_uc001dsk.1_Missense_Mutation_p.A896V|AGL_uc001dsl.1_Missense_Mutation_p.A896V|AGL_uc001dsm.1_Missense_Mutation_p.A880V|AGL_uc001dsn.1_Missense_Mutation_p.A879V	NM_000642	NP_000635	P35573	GDE_HUMAN	Homo sapiens amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase (AGL), transcript variant 1, mRNA.	896					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		CTTAGTCTTGCCTCCAGATTAA	0.351000														18			17		0	0	6.4e-05	0	0
C1orf65	164127	broad.mit.edu	37	1	223568233	223568233	+	Silent	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr1:223568233C>T	uc001hoa.2	+	0	1519	c.1416C>T	c.(1414-1416)cgC>cgT	p.R472R		NM_152610	NP_689823	Q8N715	CA065_HUMAN	Homo sapiens chromosome 1 open reading frame 65 (C1orf65), mRNA.	472										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		AGCGGCAACGCGAGCTGAGGG	0.607000														21			9		0	0	0.000442599	0	0
PIK3CA	5290	broad.mit.edu	37	3	178921433	178921433	+	Silent	SNP	A	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr3:178921433A>T	uc003fjk.3	+	4	1072	c.915A>T	c.(913-915)ccA>ccT	p.P305P		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	305					T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TTACAATGCCATCTTATTCCA	0.368000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)				103			26		0	0	0.00106085	0	0
CYTH1	9267	broad.mit.edu	37	17	76676303	76676303	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr17:76676303C>T	uc021ueg.1	-	11	1158	c.1087G>A	c.(1087-1089)Gag>Aag	p.E363K	CYTH1_uc010wtv.2_Non-coding_Transcript|CYTH1_uc002jvw.3_Missense_Mutation_p.E362K	NM_004762	NP_004753	Q15438	CYH1_HUMAN	Homo sapiens cytohesin 1 (CYTH1), transcript variant 1, mRNA.	363	PH.				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	19						TCCTTCTCCTCGGGCGTCGGA	0.562000														40			19		0	0	0.000295444	0	0
OBSCN	84033	broad.mit.edu	37	1	228481085	228481085	+	Silent	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr1:228481085G>A	uc009xez.1	+	40	10943	c.10899G>A	c.(10897-10899)agG>agA	p.R3633R	OBSCN_uc001hsn.3_Silent_p.R3633R|OBSCN_uc001hsq.1_Silent_p.R889R	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	3633	Ig-like 37.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGGGTCTGAGGAACGAAGAGG	0.542000														15			7		0	0	8.12818e-05	0	0
UGT2B10	7365	broad.mit.edu	37	4	69874758	69874758	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr4:69874758C>T	uc011cao.1	-	6	1118	c.992G>A	c.(991-993)gGa>gAa	p.G331E	UGT2B10_uc011can.1_Missense_Mutation_p.G247E			P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	375					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						GCCATTGGCTCCACCATGAGT	0.398000														15			36		0	0	0.000374591	0	0
SLTM	79811	broad.mit.edu	37	15	59192026	59192026	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr15:59192026T>G	uc002afp.3	-	6	788	c.700A>C	c.(700-702)Act>Cct	p.T234P	SLTM_uc002afo.3_Missense_Mutation_p.T216P|SLTM_uc002afq.3_Intron|SLTM_uc010bgd.3_Intron|SLTM_uc002afr.1_Missense_Mutation_p.T133P	NM_024755	NP_079031	Q9NWH9	SLTM_HUMAN	Homo sapiens SAFB-like, transcription modulator (SLTM), transcript variant 1, mRNA.	234	Glu-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TCTTTCACAGTCGTATGAGCT	0.463000														43			65		0	0	0.000781405	0	0
AQP5	362	broad.mit.edu	37	12	50355884	50355885	+	Silent	DNP	CC	TT	TT			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr12:50355884_50355885CC>TT	uc001rvo.2	+	0	606_607	c.84_85CC>TT	c.(82-87)ggcctg>ggTTtg	p.28_29GL>GL		NM_001651	NP_001642	P55064	AQP5_HUMAN	Homo sapiens aquaporin 5 (AQP5), mRNA.	28					carbon dioxide transport|excretion|odontogenesis|pancreatic juice secretion	apical plasma membrane|integral to plasma membrane	protein binding|water channel activity			large_intestine(1)|lung(3)	4						TCTTCTTTGGCCTGGGCTCGGC	0.668000														22			12		0	0	6.4e-05	0	0
CNTN2	6900	broad.mit.edu	37	1	205033865	205033866	+	Silent	DNP	CC	TT	TT			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr1:205033865_205033866CC>TT	uc001hbr.3	+	11	1775_1776	c.1506_1507CC>TT	c.(1504-1509)atccta>atTTta	p.502_503IL>IL	CNTN2_uc001hbq.1_Silent_p.393_394IL>IL|CNTN2_uc001hbs.3_Silent_p.290_291IL>IL	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	Homo sapiens contactin 2 (axonal) (CNTN2), mRNA.	502	Ig-like C2-type 5.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GCACTGGAATCCTATCTGTGCG	0.550000														98			20		0	0	6.4e-05	0	0
IQCH	64799	broad.mit.edu	37	15	67681217	67681217	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr15:67681217A>C	uc002aqo.2	+	11	1602	c.1505A>C	c.(1504-1506)gAg>gCg	p.E502A	IQCH_uc002aqp.2_Missense_Mutation_p.E254A|IQCH_uc002aqq.2_Missense_Mutation_p.E250A	NM_001031715	NP_001026885	Q86VS3	IQCH_HUMAN	Homo sapiens IQ motif containing H (IQCH), transcript variant 1, mRNA.	502										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		ATGAATGACGAGTTAGTGCTG	0.393000														53			26		0	0	0.000586117	0	0
STARD10	10809	broad.mit.edu	37	11	72492032	72492032	+	Silent	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr11:72492032C>T	uc001osy.3	-	1	379	c.195G>A	c.(193-195)ctG>ctA	p.L65L	ARAP1_uc001osv.3_Intron|STARD10_uc001osz.4_Silent_p.L65L|STARD10_uc001ota.3_Intron|STARD10_uc001otb.3_Silent_p.L65L|MIR4692_uc021qmz.1_5'Flank	NM_006645	NP_006636	Q9Y365	PCTL_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 10 (STARD10), mRNA.	65	START.									endometrium(4)|large_intestine(1)|lung(2)|prostate(1)	8			BRCA - Breast invasive adenocarcinoma(5;7.08e-07)			TGATCTTGTGCAGCGTCCGAT	0.612000														121			39		0	0	0.000509022	0	0
DNMT3A	1788	broad.mit.edu	37	2	25467476	25467476	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr2:25467476G>A	uc002rgc.3	-	13	1857	c.1600C>T	c.(1600-1602)Cag>Tag	p.Q534*	DNMT3A_uc002rgd.3_Nonsense_Mutation_p.Q534*|DNMT3A_uc010eyi.3_Non-coding_Transcript|DNMT3A_uc002rgb.3_Nonsense_Mutation_p.Q345*	NM_022552	NP_783328	Q9Y6K1	DNM3A_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3 alpha (DNMT3A), transcript variant 3, mRNA.	534	ADD.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	p.Y533C(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGTAGGACTGGTAGCCGTCG	0.597000			"""Mis, F, N, S"""		AML									51			8		0	0	0.000442599	0	0
C16orf58	64755	broad.mit.edu	37	16	31503655	31503655	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr16:31503655A>G	uc002eci.2	-	10	1106	c.1094T>C	c.(1093-1095)gTa>gCa	p.V365A	C16orf58_uc002ecg.3_5'Flank|C16orf58_uc002ech.2_Missense_Mutation_p.V103A	NM_022744	NP_073581	Q96GQ5	CP058_HUMAN	Homo sapiens chromosome 16 open reading frame 58 (C16orf58), mRNA.	365						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)	14						AACTACCTGTACCTGGTCTGG	0.607000														12			15		0	0	0.000219431	0	0
GPR98	84059	broad.mit.edu	37	5	89949028	89949028	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr5:89949028G>A	uc003kju.3	+	19	3733	c.3637G>A	c.(3637-3639)Gga>Aga	p.G1213R	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	1213					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			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)		TGTTACAGGTGGATCCCCAGG	0.398000														3			6		0	0	3.59834e-05	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19409605	19409605	+	RNA	SNP	C	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr13:19409605C>A	uc010tcj.1	-	0		c.36505G>T								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		TTTTTCTCTTCTAGCATGAGG	0.318000														22			12		7.03913e-09	7.19283e-08	0.00010058	1	0
BCL2L12	83596	broad.mit.edu	37	19	50173529	50173529	+	Silent	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr19:50173529C>T	uc002ppa.3	+	5	1420	c.738C>T	c.(736-738)ttC>ttT	p.F246F	BCL2L12_uc002ppb.3_Silent_p.F245F	NM_138639	NP_619580	Q9HB09	B2L12_HUMAN	Homo sapiens BCL2-like 12 (proline rich) (BCL2L12), transcript variant 1, mRNA.	246					apoptosis					central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	8		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)		CCGACTCTTTCGCCCGCCTGG	0.731000														16			5		0	0	8.12818e-05	0	0
PHACTR3	116154	broad.mit.edu	37	20	58381145	58381145	+	Silent	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr20:58381145G>A	uc002yau.3	+	7	1691	c.1224G>A	c.(1222-1224)agG>agA	p.R408R	PHACTR3_uc002yat.3_Silent_p.R405R|PHACTR3_uc010zzw.2_Silent_p.R367R|PHACTR3_uc002yav.3_Silent_p.R367R|PHACTR3_uc002yaw.3_Silent_p.R367R|PHACTR3_uc002yax.3_Silent_p.R297R	NM_080672	NP_899067	Q96KR7	PHAR3_HUMAN	Homo sapiens phosphatase and actin regulator 3 (PHACTR3), transcript variant 1, mRNA.	408						nuclear matrix	actin binding|protein phosphatase inhibitor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			TGAAGCTAAGGAACCGGCCAA	0.517000														115			136		0	0	0.000781405	0	0
WDR12	55759	broad.mit.edu	37	2	203764315	203764316	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr2:203764315_203764316GG>TT	uc002uzl.3	-	3	1026_1027	c.276_277CC>AA	c.(274-279)ccccag>ccAAag	p.Q93K		NM_018256	NP_060726	Q9GZL7	WDR12_HUMAN	Homo sapiens WD repeat domain 12 (WDR12), mRNA.	93					cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	PeBoW complex|nucleoplasm|preribosome, large subunit precursor	protein binding			endometrium(3)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)	13						TGCTCTGGCTGGGGTGCAGTAT	0.396000														434			12		0	0	6.4e-05	0	0
CACNA1G	8913	broad.mit.edu	37	17	48669190	48669190	+	Silent	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr17:48669190C>T	uc002irk.1	+	11	3102	c.2730C>T	c.(2728-2730)ctC>ctT	p.L910L	CACNA1G_uc002iri.1_Silent_p.L910L|CACNA1G_uc002irj.1_Silent_p.L910L|CACNA1G_uc002irl.1_Silent_p.L910L|CACNA1G_uc002irm.1_Silent_p.L910L|CACNA1G_uc002irn.1_Silent_p.L910L|CACNA1G_uc002iro.1_Silent_p.L910L|CACNA1G_uc002irp.1_Silent_p.L910L|CACNA1G_uc002irq.1_Silent_p.L910L|CACNA1G_uc002irr.1_Silent_p.L910L|CACNA1G_uc002irs.1_Silent_p.L910L|CACNA1G_uc002irt.1_Silent_p.L910L|CACNA1G_uc002iru.1_Silent_p.L910L|CACNA1G_uc002irv.1_Silent_p.L910L|CACNA1G_uc002irw.1_Silent_p.L910L|CACNA1G_uc002irx.1_Silent_p.L823L|CACNA1G_uc002iry.1_Silent_p.L823L|CACNA1G_uc002isg.1_Silent_p.L823L|CACNA1G_uc002ish.1_Silent_p.L823L|CACNA1G_uc002isi.1_Silent_p.L823L|CACNA1G_uc002irz.1_Silent_p.L823L|CACNA1G_uc002isa.1_Silent_p.L823L|CACNA1G_uc002isd.1_Silent_p.L823L|CACNA1G_uc002isb.1_Silent_p.L823L|CACNA1G_uc002isc.1_Silent_p.L823L|CACNA1G_uc002ise.1_Silent_p.L823L|CACNA1G_uc002isf.1_Silent_p.L823L	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	910					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	ACTCCTTGCTCTGGGCCATCG	0.597000														54			13		0	0	0.000151284	0	0
ALDH1A2	8854	broad.mit.edu	37	15	58302877	58302877	+	Missense_Mutation	SNP	C	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr15:58302877C>A	uc002aex.3	-	3	736	c.463G>T	c.(463-465)Gat>Tat	p.D155Y	ALDH1A2_uc010ugv.2_Missense_Mutation_p.D134Y|ALDH1A2_uc002aey.3_Missense_Mutation_p.D155Y|ALDH1A2_uc010ugw.2_Missense_Mutation_p.D126Y|ALDH1A2_uc002aew.3_Missense_Mutation_p.D59Y	NM_003888	NP_733798	O94788	AL1A2_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member A2 (ALDH1A2), transcript variant 1, mRNA.	155					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	TGAATTTTATCAGCCCAGCCT	0.443000														51			14		2.61681e-11	2.69401e-10	0.000219431	1	0
NUP37	79023	broad.mit.edu	37	12	102468181	102468181	+	Missense_Mutation	SNP	C	G	G			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr12:102468181C>G	uc001tjc.3	-	8	997	c.932G>C	c.(931-933)tGt>tCt	p.C311S		NM_024057	NP_076962	Q8NFH4	NUP37_HUMAN	Homo sapiens nucleoporin 37kDa (NUP37), mRNA.	311					carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mRNA transport|mitotic prometaphase|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|condensed chromosome kinetochore|cytosol	protein binding			endometrium(3)|large_intestine(3)|lung(10)|ovary(1)	17						TCCAATTACACACAGAGGGAG	0.393000														19			3		0	0	6.4e-05	0	0
NANOG	79923	broad.mit.edu	37	12	7947353	7947353	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr12:7947353C>T	uc009zfy.1	+	3	796	c.580C>T	c.(580-582)Cca>Tca	p.P194S		NM_024865	NP_079141	Q9H9S0	NANOG_HUMAN	Homo sapiens Nanog homeobox (NANOG), mRNA.	194					cell proliferation|embryo development|somatic stem cell maintenance	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14				Kidney(36;0.0872)		TGGGAACCTTCCAATGTGGAG	0.542000														5			20		0	0	0.000295444	0	0
BSG	682	broad.mit.edu	37	19	582305	582305	+	Splice_Site	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr19:582305G>A	uc002loz.3	+	7	1168	c.1070_splice	c.e7-1	p.D357_splice	BSG_uc002loy.3_Splice_Site_p.D177_splice|BSG_uc021ulx.1_Splice_Site_p.D148_splice|BSG_uc002lpa.3_Splice_Site_p.D241_splice|BSG_uc002lpc.3_Splice_Site_p.D404_splice	NM_001728	NP_001719	P35613	BASI_HUMAN	Homo sapiens basigin (Ok blood group) (BSG), transcript variant 1, mRNA.	357	Poly-Asp.				blood coagulation|cell surface receptor linked signaling pathway|leukocyte migration|pyruvate metabolic process	Golgi membrane|integral to membrane|melanosome	lactate transmembrane transporter activity|mannose binding|protein binding			central_nervous_system(1)|endometrium(3)|lung(1)	5		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCTTCTTCAGATGACGACGC	0.637000														30			19		0	0	0.00047179	0	0
SELS	55829	broad.mit.edu	37	15	101814677	101814677	+	Silent	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr15:101814677G>A	uc021sxu.1	-	4	510	c.432C>T	c.(430-432)tcC>tcT	p.S144S	SELS_uc021sxv.1_Silent_p.S144S	NM_203472		Q9BQE4	SELS_HUMAN	Homo sapiens selenoprotein S (SELS), transcript variant 1, mRNA.	144					ER overload response|ER-associated protein catabolic process|anti-apoptosis|cell redox homeostasis|cellular response to insulin stimulus|cellular response to lipopolysaccharide|cellular response to oxidative stress|endoplasmic reticulum unfolded protein response|negative regulation of acute inflammatory response to antigenic stimulus|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of interleukin-6 production|negative regulation of nitric-oxide synthase biosynthetic process|negative regulation of tumor necrosis factor production|regulation of gluconeogenesis|regulation of nitric oxide metabolic process|response to glucose stimulus|response to redox state|retrograde protein transport, ER to cytosol	integral to endoplasmic reticulum membrane|low-density lipoprotein particle|microsome|plasma membrane|very-low-density lipoprotein particle	antioxidant activity|enzyme binding|receptor activity|selenium binding					Lung NSC(78;0.00156)|all_lung(78;0.00195)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00113)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CAGATGAAGTGGAAGGCCCAG	0.458000														6			8		0	0	0.000274275	0	0
DIDO1	11083	broad.mit.edu	37	20	61511949	61511949	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr20:61511949C>T	uc002ydr.2	-	15	5671	c.5359G>A	c.(5359-5361)Gct>Act	p.A1787T	DIDO1_uc002yds.2_Missense_Mutation_p.A1787T	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	1787	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TCGTTAGAAGCGATATTCTCT	0.617000														173			15		0	0	0.000566183	0	0
GPR112	139378	broad.mit.edu	37	X	135427956	135427956	+	Silent	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chrX:135427956C>T	uc004ezu.1	+	5	2382	c.2091C>T	c.(2089-2091)tcC>tcT	p.S697S	GPR112_uc010nsb.1_Silent_p.S492S|GPR112_uc010nsc.1_Silent_p.S464S	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	697					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)					AATATTTATCCGCAACTACCA	0.398000														2			24		0	0	0.00047179	0	0
PML	5371	broad.mit.edu	37	15	74290560	74290560	+	Silent	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr15:74290560C>T	uc002awv.3	+	1	485	c.345C>T	c.(343-345)cgC>cgT	p.R115R	PML_uc002awj.1_Silent_p.R115R|PML_uc002awm.3_Silent_p.R115R|PML_uc002awl.3_Silent_p.R115R|PML_uc002awk.3_Silent_p.R115R|PML_uc002awn.3_Silent_p.R115R|PML_uc002awo.3_Silent_p.R115R|PML_uc002awp.3_Silent_p.R115R|PML_uc002awq.3_Silent_p.R115R|PML_uc002awr.3_Silent_p.R115R|PML_uc002aws.3_Silent_p.R115R|PML_uc002awt.3_Silent_p.R115R|PML_uc002awu.3_Silent_p.R115R|PML_uc010ule.2_Intron|PML_uc002aww.1_Silent_p.R30R	NM_033238	NP_150241	P29590	PML_HUMAN	Homo sapiens promyelocytic leukemia (PML), transcript variant 1, mRNA.	115					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|PML body organization|cell cycle arrest|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	PML body|cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus	DNA binding|SUMO binding|cobalt ion binding|protein binding|protein heterodimerization activity|protein homodimerization activity|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						TGCAGCGGCGCCTGTCGGTGT	0.642000			T	"""RARA, PAX5"""	"""APL, ALL"""									24			25		0	0	0.000586117	0	0
HERC3	8916	broad.mit.edu	37	4	89591116	89591116	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr4:89591116C>T	uc003hrw.1	+	14	1905	c.1739C>T	c.(1738-1740)cCc>cTc	p.P580L	HERC3_uc011cdn.1_Missense_Mutation_p.P462L|HERC3_uc011cdo.1_Missense_Mutation_p.P24L	NM_014606	NP_055421	Q15034	HERC3_HUMAN	Homo sapiens hect domain and RLD 3 (HERC3), mRNA.	580					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity	p.P580P(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		TTCTTAATTCCCGTACTGTTT	0.428000														14			22		0	0	0.000229342	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140801022	140801022	+	Silent	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr5:140801022C>T	uc003lkq.2	+	0	486	c.228C>T	c.(226-228)ttC>ttT	p.F76F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lko.1_Silent_p.F76F|PCDHGC5_uc003lkp.2_Silent_p.F76F	NM_018914	NP_061737	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 11 (PCDHGA11), transcript variant 1, mRNA.	75	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACAGCTTTTCGCTGTGAATC	0.587000														17			34		0	0	0.000814825	0	0
CCDC38	120935	broad.mit.edu	37	12	96311013	96311013	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr12:96311013C>T	uc001tek.2	-	3	432	c.198G>A	c.(196-198)atG>atA	p.M66I		NM_182496	NP_872302	Q502W7	CCD38_HUMAN	Homo sapiens coiled-coil domain containing 38 (CCDC38), mRNA.	66										breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						AATGACTCTTCATTCTGGATG	0.378000														22			15		0	0	0.000308642	0	0
RAB11FIP3	9727	broad.mit.edu	37	16	476580	476580	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr16:476580C>T	uc002chf.3	+	0	913	c.574C>T	c.(574-576)Ccc>Tcc	p.P192S		NM_014700	NP_055515	O75154	RFIP3_HUMAN	Homo sapiens RAB11 family interacting protein 3 (class II) (RAB11FIP3), transcript variant 1, mRNA.	192	Pro-rich.				cell cycle|cytokinesis|endocytic recycling|protein transport	centrosome|cleavage furrow|midbody|recycling endosome membrane	ADP-ribosylation factor binding|Rab GTPase binding|calcium ion binding|protein homodimerization activity			breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1)	12		Hepatocellular(16;0.0218)				CCAGACCCACCCCCTTCCGAG	0.731000														15			4		0	0	0.000602214	0	0
FOXR2	139628	broad.mit.edu	37	X	55650514	55650514	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chrX:55650514G>A	uc004duo.3	+	0	682	c.370G>A	c.(370-372)Gag>Aag	p.E124K		NM_198451	NP_940853	Q6PJQ5	FOXR2_HUMAN	Homo sapiens forkhead box R2 (FOXR2), mRNA.	124					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						TAACTGCTCAGAGGACAAAGT	0.517000														1			12		0	0	0.00010058	0	0
LRP1B	53353	broad.mit.edu	37	2	141460024	141460024	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr2:141460024C>T	uc002tvj.1	-	37	7094	c.6122G>A	c.(6121-6123)tGg>tAg	p.W2041*		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	2041					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)		GCCATTCGGCCATGCTATTCC	0.438000										TSP Lung(27;0.18)				16			4		0	0	0.000602214	0	0
KCNK9	51305	broad.mit.edu	37	8	140631316	140631316	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr8:140631316C>T	uc003yvf.1	-	1	374	c.310G>A	c.(310-312)Gat>Aat	p.D104N	KCNK9_uc003yvg.1_Missense_Mutation_p.D104N|KCNK9_uc003yve.1_Non-coding_Transcript	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	Homo sapiens potassium channel, subfamily K, member 9 (KCNK9), mRNA.	104						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			TTGCCCGCATCGGTGCCAGGT	0.612000														20			8		0	0	0.000274275	0	0
C6orf15	29113	broad.mit.edu	37	6	31079317	31079318	+	Missense_Mutation	DNP	CC	TT	TT	rs147375238	byFrequency	TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr6:31079317_31079318CC>TT	uc003nsk.1	-	1	818_819	c.818_819GG>AA	c.(817-819)ggg>gAA	p.G273E		NM_014070	NP_054789	Q6UXA7	CF015_HUMAN	Homo sapiens chromosome 6 open reading frame 15 (C6orf15), mRNA.	273	Gly-rich.							p.G273R(1)		endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						GATTAATATTCCCCCAGCTGCC	0.500000														91			32		0	0	6.4e-05	0	0
WBSCR17	64409	broad.mit.edu	37	7	71177002	71177002	+	Splice_Site	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr7:71177002G>A	uc003tvy.3	+	11	1669	c.1669_splice	c.e11-1	p.N557_splice	WBSCR17_uc003tvz.3_Splice_Site_p.N256_splice	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	557	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CCCCCTCCCAGAATGGAGCCA	0.562000														49			46		0	0	0.000781405	0	0
OR10A7	121364	broad.mit.edu	37	12	55615394	55615394	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr12:55615394G>A	uc010spf.2	+	0	586	c.586G>A	c.(586-588)Gaa>Aaa	p.E196K		NM_001005280	NP_001005280	Q8NGE5	O10A7_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 7 (OR10A7), mRNA.	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						AACCATGTATGAAATGCAAGC	0.443000														22			15		0	0	0.000308642	0	0
ASNSD1	54529	broad.mit.edu	37	2	190532655	190532655	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr2:190532655C>T	uc002uqt.3	+	4	2064	c.1630C>T	c.(1630-1632)Cat>Tat	p.H544Y		NM_019048	NP_061921	Q9NWL6	ASND1_HUMAN	Homo sapiens asparagine synthetase domain containing 1 (ASNSD1), mRNA.	544	Asparagine synthetase.				asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			TATTGGTGATCATGGAAAAGA	0.358000														79			17		0	0	0.000958276	0	0
GAL3ST1	9514	broad.mit.edu	37	22	30953356	30953357	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr22:30953356_30953357GG>AA	uc003aig.1	-	2	163_164	c.23_24CC>TT	c.(22-24)ccc>cTT	p.P8L	GAL3ST1_uc003aih.1_Missense_Mutation_p.P8L|GAL3ST1_uc003aii.1_Missense_Mutation_p.P8L|GAL3ST1_uc010gvz.1_Missense_Mutation_p.P8L	NM_004861	NP_004852	Q99999	G3ST1_HUMAN	Homo sapiens galactose-3-O-sulfotransferase 1 (GAL3ST1), mRNA.	8					protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						TGGACTCCCAGGGCTTCTTCTG	0.653000														34			52		0	0	6.4e-05	0	0
BLNK	29760	broad.mit.edu	37	10	97983740	97983740	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr10:97983740G>A	uc001kls.4	-	5	545	c.367C>T	c.(367-369)Cga>Tga	p.R123*	BLNK_uc001kme.4_Nonsense_Mutation_p.R41*|BLNK_uc001klt.4_Nonsense_Mutation_p.R37*|BLNK_uc009xvc.3_Intron|BLNK_uc001klu.4_Nonsense_Mutation_p.R41*|BLNK_uc001klv.4_Intron|BLNK_uc001klw.4_Non-coding_Transcript|BLNK_uc001klx.4_Nonsense_Mutation_p.R123*|BLNK_uc001kly.4_Nonsense_Mutation_p.R123*|BLNK_uc001klz.4_Intron|BLNK_uc001kma.4_Nonsense_Mutation_p.R123*|BLNK_uc001kmb.4_Intron|BLNK_uc001kmc.4_Non-coding_Transcript|BLNK_uc001kmd.4_Nonsense_Mutation_p.R41*|BLNK_uc009xvd.3_Intron	NM_013314	NP_037446	Q8WV28	BLNK_HUMAN	Homo sapiens B-cell linker (BLNK), transcript variant 1, mRNA.	123	Pro-rich.				B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		TGGCTTGATCGATTGTCTTGA	0.498000														55			56		0	0	0.000781405	0	0
SIPA1	6494	broad.mit.edu	37	11	65417243	65417244	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr11:65417243_65417244CC>TT	uc001ofb.2	+	11	2820_2821	c.2653_2654CC>TT	c.(2653-2655)ccc>TTc	p.P885F	SIPA1_uc010rom.1_Missense_Mutation_p.P783F|SIPA1_uc001ofd.2_Missense_Mutation_p.P885F	NM_006747	NP_694985	Q96FS4	SIPA1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 (SIPA1), transcript variant 2, mRNA.	885					cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						GCCAGGCAGTCCCAGTGGCTCT	0.599000														36			17		0	0	6.4e-05	0	0
GRN	2896	broad.mit.edu	37	17	42429791	42429791	+	Missense_Mutation	SNP	T	G	G	rs63751698		TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr17:42429791T>G	uc002igp.1	+	11	1715	c.1496T>G	c.(1495-1497)gTg>gGg	p.V499G		NM_002087	NP_002078	P28799	GRN_HUMAN	Homo sapiens granulin (GRN), mRNA.	499					signal transduction	extracellular space	cytokine activity|growth factor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		GAGAAGGAAGTGGTCTCTGCC	0.632000														49			7		0	0	0.000442599	0	0
KRTAP4-8	728224	broad.mit.edu	37	17	39253944	39253944	+	Silent	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr17:39253944G>A	uc010wfo.2	-	0	432	c.393C>T	c.(391-393)atC>atT	p.I131I		NM_031960	NP_114166	Q9BYQ9	KRA48_HUMAN	Homo sapiens keratin associated protein 4-8 (KRTAP4-8), mRNA.	131	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].					keratin filament				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						agcagctggagatgctgcagc	0.672000														1			13		0	0	0.000151284	0	0
WNT7A	7476	broad.mit.edu	37	3	13860703	13860703	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr3:13860703G>A	uc003bye.1	-	3	1093	c.788C>T	c.(787-789)cCc>cTc	p.P263L		NM_004625	NP_004616	O00755	WNT7A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 7A (WNT7A), mRNA.	263					Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway|activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of JNK cascade|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						CGTGTCCATGGGCTTGCGGTA	0.627000														69			38		0	0	0.000589545	0	0
ZNF235	9310	broad.mit.edu	37	19	44792789	44792789	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr19:44792789C>T	uc002oza.4	-	4	902	c.799G>A	c.(799-801)Gaa>Aaa	p.E267K	ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.3_Intron|ZNF235_uc002ozb.4_Missense_Mutation_p.E263K	NM_004234	NP_004225	Q14590	ZN235_HUMAN	Homo sapiens zinc finger protein 235 (ZNF235), mRNA.	267					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				TCTTCACATTCATTACCCTGG	0.418000														32			5		0	0	0.000602214	0	0
NIPBL	25836	broad.mit.edu	37	5	37022475	37022475	+	Silent	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr5:37022475C>T	uc003jkl.4	+	28	6056	c.5557C>T	c.(5557-5559)Ctg>Ttg	p.L1853L	NIPBL_uc003jkk.4_Silent_p.L1853L	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA.	1853					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TTATGATATGCTGATTGAAAG	0.333000														36			16		0	0	0.00074312	0	0
DNAH7	56171	broad.mit.edu	37	2	196681368	196681368	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr2:196681368C>T	uc002utj.4	-	50	9846	c.9745G>A	c.(9745-9747)Gaa>Aaa	p.E3249K		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3249					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GCCAAAATTTCTGATTTCTCT	0.328000														25			10		0	0	0.000673444	0	0
POLR1B	84172	broad.mit.edu	37	2	113333151	113333151	+	Missense_Mutation	SNP	C	G	G			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr2:113333151C>G	uc002thw.2	+	14	3833	c.3253C>G	c.(3253-3255)Ccc>Gcc	p.P1085A	POLR1B_uc010fkn.2_Missense_Mutation_p.P1029A|POLR1B_uc002thx.2_Missense_Mutation_p.P946A|POLR1B_uc010fko.2_Missense_Mutation_p.P902A|POLR1B_uc010fkp.2_Missense_Mutation_p.P524A|POLR1B_uc002thy.2_Missense_Mutation_p.P946A|POLR1B_uc010yxo.1_Missense_Mutation_p.P862A	NM_019014	NP_061887	Q9H9Y6	RPA2_HUMAN	Homo sapiens polymerase (RNA) I polypeptide B, 128kDa (POLR1B), transcript variant 1, mRNA.	1085					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						GGAGAAGCCACCCCCTTCTTG	0.483000														27			27		0	0	0.00106085	0	0
FAM83A	84985	broad.mit.edu	37	8	124195541	124195541	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr8:124195541G>A	uc003ypv.3	+	1	2459	c.445G>A	c.(445-447)Gac>Aac	p.D149N	FAM83A_uc003ypw.3_Missense_Mutation_p.D149N|U3_uc022bai.1_5'Flank|FAM83A_uc003ypx.3_Missense_Mutation_p.D149N|FAM83A_uc003ypy.3_Missense_Mutation_p.D149N|FAM83A_uc003ypz.3_Missense_Mutation_p.D149N	NM_032899	NP_116288	Q86UY5	FA83A_HUMAN	Homo sapiens family with sequence similarity 83, member A (FAM83A), transcript variant 1, mRNA.	149										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			CAACATCAGAGACCTCGTCCG	0.597000														35			20		0	0	0.000958276	0	0
GABRG2	2566	broad.mit.edu	37	5	161569262	161569262	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr5:161569262G>A	uc010jjc.3	+	7	1340	c.982G>A	c.(982-984)Gtc>Atc	p.V328I	GABRG2_uc003lyy.4_Missense_Mutation_p.V288I|GABRG2_uc003lyz.4_Missense_Mutation_p.V288I|GABRG2_uc011dej.2_Missense_Mutation_p.V193I	NM_198903	NP_944493	P18507	GBRG2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 2 (GABRG2), transcript variant 3, mRNA.	288			K -> M (in GEFS+3).		gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		ACTCATTGTCGTCCTATCCTG	0.433000														37			97		0	0	0.000781405	0	0
DCLK3	85443	broad.mit.edu	37	3	36779958	36779958	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr3:36779958C>T	uc003cgi.2	-	1	684	c.193G>A	c.(193-195)Gaa>Aaa	p.E65K		NM_033403	NP_208382	Q9C098	DCLK3_HUMAN	Homo sapiens doublecortin-like kinase 3 (DCLK3), mRNA.	65						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						CCTGCAACTTCGCTGCAGCTC	0.612000														60			63		0	0	0.000781405	0	0
YSK4	80122	broad.mit.edu	37	2	135738899	135738899	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr2:135738899T>C	uc002tue.1	-	8	3443	c.3412A>G	c.(3412-3414)Att>Gtt	p.I1138V	YSK4_uc002tuf.1_Missense_Mutation_p.I320V|YSK4_uc010fnc.1_Missense_Mutation_p.I272V|YSK4_uc010fnd.1_Missense_Mutation_p.I1025V|YSK4_uc010zbg.1_Missense_Mutation_p.I270V|YSK4_uc021vpz.1_5'UTR|YSK4_uc002tuh.4_Missense_Mutation_p.I866V|YSK4_uc002tui.4_3'UTR	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.	1138	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(221;0.112)		TCCATGAAAATGCTCACAGTG	0.408000														45			17		0	0	0.000958276	0	0
TWIST1	7291	broad.mit.edu	37	7	19156395	19156395	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr7:19156395T>C	uc003sum.3	-	0	901	c.550A>G	c.(550-552)Agc>Ggc	p.S184G	TWIST1_uc022aah.1_Missense_Mutation_p.S184G	NM_000474	NP_000465	Q15672	TWST1_HUMAN	Homo sapiens twist homolog 1 (Drosophila) (TWIST1), mRNA.	184	Sufficient for transactivation activity (By similarity).				aortic valve morphogenesis|cellular response to hypoxia|embryonic camera-type eye formation|embryonic cranial skeleton morphogenesis|eyelid development in camera-type eye|muscle organ development|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of histone phosphorylation|negative regulation of osteoblast differentiation|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of cell motility|positive regulation of epithelial to mesenchymal transition|positive regulation of fatty acid beta-oxidation|positive regulation of monocyte chemotactic protein-1 production|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of tumor necrosis factor production|regulation of bone mineralization	nucleus	E-box binding|bHLH transcription factor binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			lung(2)|upper_aerodigestive_tract(1)	3						AAGGCGTAGCTGAGCCGCTCG	0.657000														15			6		0	0	8.12818e-05	0	0
ICA1L	130026	broad.mit.edu	37	2	203684597	203684597	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr2:203684597G>A	uc002uzh.1	-	5	549	c.385C>T	c.(385-387)Cgt>Tgt	p.R129C	ICA1L_uc002uzi.1_Missense_Mutation_p.R129C|ICA1L_uc021vvi.1_Non-coding_Transcript|ICA1L_uc002uzj.3_Missense_Mutation_p.R129C	NM_138468	NP_612477	Q8NDH6	ICA1L_HUMAN	Homo sapiens islet cell autoantigen 1,69kDa-like (ICA1L), transcript variant 1, mRNA.	129	AH.									breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGCTTCAGACGAGACAGAGGA	0.423000														237			79		0	0	0.000781405	0	0
GTF2IRD2B	389524	broad.mit.edu	37	7	74564144	74564144	+	Missense_Mutation	SNP	C	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr7:74564144C>A	uc003ubt.3	+	15	2106	c.1891C>A	c.(1891-1893)Ctt>Att	p.L631I	GTF2IRD2B_uc010lcd.3_Missense_Mutation_p.L384I|GTF2IRD2B_uc003ubu.3_Missense_Mutation_p.L461I	NM_001003795	NP_001003795	Q6EKJ0	GTD2B_HUMAN	Homo sapiens GTF2I repeat domain containing 2B (GTF2IRD2B), mRNA.	631					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|ovary(2)|prostate(1)	4						caataacgggcttgtcacaaa	0.507000														57			9		4.36969e-10	4.47622e-09	0.000151284	1	0
SLC22A16	85413	broad.mit.edu	37	6	110763784	110763784	+	Silent	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr6:110763784G>A	uc003puf.3	-	3	913	c.846C>T	c.(844-846)atC>atT	p.I282I	SLC22A16_uc003pue.3_Silent_p.I263I	NM_033125	NP_149116	Q86VW1	S22AG_HUMAN	Homo sapiens solute carrier family 22 (organic cation/carnitine transporter), member 16 (SLC22A16), mRNA.	282					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		AACAGCACAGGATAAAGGGGA	0.488000														25			22		0	0	0.000375601	0	0
NFKBIB	4793	broad.mit.edu	37	19	39396030	39396030	+	Silent	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr19:39396030C>T	uc002ojw.3	+	2	577	c.474C>T	c.(472-474)ccC>ccT	p.P158P	NFKBIB_uc010egk.2_Silent_p.P72P|NFKBIB_uc002ojx.3_Silent_p.P126P|NFKBIB_uc002ojy.3_Silent_p.P158P	NM_002503	NP_001230045	Q15653	IKBB_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta (NFKBIB), transcript variant 1, mRNA.	158					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|positive regulation of NF-kappaB transcription factor activity|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleus	protein binding|signal transducer activity|transcription coactivator activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	8	all_cancers(60;4.39e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			GGGAAGCCCCCGACACCTACC	0.687000														13			4		0	0	0.00024832	0	0
ASXL2	55252	broad.mit.edu	37	2	25990459	25990459	+	Silent	SNP	G	C	C			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr2:25990459G>C	uc002rgs.2	-	6	989	c.768C>G	c.(766-768)ctC>ctG	p.L256L	ASXL2_uc002rgt.1_5'UTR|U2_uc021ves.1_5'Flank	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	Homo sapiens additional sex combs like 2 (Drosophila) (ASXL2), mRNA.	256					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TACTGGTATGGAGTCTCTCAG	0.393000														51			29		0	0	0.000409698	0	0
ETV1	2115	broad.mit.edu	37	7	13935665	13935665	+	Silent	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr7:13935665G>A	uc021zzz.1	-	11	1347	c.1260C>T	c.(1258-1260)gcC>gcT	p.A420A	ETV1_uc021zzt.1_Silent_p.A380A|ETV1_uc021zzu.1_Silent_p.A317A|ETV1_uc021zzv.1_Silent_p.A362A|ETV1_uc021zzw.1_3'UTR|ETV1_uc021zzx.1_3'UTR|ETV1_uc021zzy.1_3'UTR|ETV1_uc022aaa.1_Silent_p.A402A|ETV1_uc022aab.1_3'UTR|ETV1_uc003ssw.4_Silent_p.A397A|ETV1_uc003ssx.3_Non-coding_Transcript|ETV1_uc022aac.1_3'UTR|ETV1_uc022aad.1_3'UTR|ETV1_uc021zzs.1_5'Flank	NM_004956	NP_004947	P50549	ETV1_HUMAN	Homo sapiens ets variant 1 (ETV1), transcript variant 1, mRNA.	420					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						TGGAGAAAAGGGCTTCTGGAT	0.483000			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""									16			15		0	0	0.000566183	0	0
DDX11	1663	broad.mit.edu	37	12	31249911	31249911	+	Silent	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr12:31249911C>T	uc001rjt.1	+	16	2000	c.1749C>T	c.(1747-1749)atC>atT	p.I583I	DDX11_uc001rjr.1_Silent_p.I583I|DDX11_uc001rjs.1_Silent_p.I583I|DDX11_uc001rju.1_Silent_p.I261I|DDX11_uc001rjv.1_Silent_p.I583I|DDX11_uc001rjw.1_Silent_p.I557I|DDX11_uc009zjn.1_Non-coding_Transcript	NM_152438	NP_689651	Q96FC9	DDX11_HUMAN	Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (DDX11), transcript variant 3, mRNA.	583					G2/M transition of mitotic cell cycle|S phase of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|RNA binding|protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GCAGGGTCATCCTGAGCCGCC	0.597000										Multiple Myeloma(12;0.14)				20			9		0	0	0.000274275	0	0
MYO9A	4649	broad.mit.edu	37	15	72192092	72192092	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr15:72192092G>A	uc002atl.4	-	23	3879	c.3406C>T	c.(3406-3408)Caa>Taa	p.Q1136*	MYO9A_uc010biq.3_Nonsense_Mutation_p.Q756*|MYO9A_uc002atn.1_Nonsense_Mutation_p.Q1117*|MYO9A_uc002atk.3_5'Flank|MYO9A_uc002atm.1_5'Flank	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	Homo sapiens myosin IXA (MYO9A), mRNA.	1136	IQ 4.|Neck or regulatory domain.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	ATP binding|GTPase activator activity|actin binding|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CTTTGTTCTTGGTACCTTTTA	0.368000														36			28		0	0	0.000279167	0	0
HAPLN1	1404	broad.mit.edu	37	5	82948428	82948428	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr5:82948428C>T	uc003kim.3	-	1	387	c.316G>A	c.(316-318)Gga>Aga	p.G106R	HAPLN1_uc003kin.3_Missense_Mutation_p.G106R	NM_001884	NP_001875	P10915	HPLN1_HUMAN	Homo sapiens hyaluronan and proteoglycan link protein 1 (HAPLN1), mRNA.	106	Ig-like V-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		TGGTAGCCTCCATAGGTTTTT	0.433000														68			14		0	0	0.000422831	0	0
GPR98	84059	broad.mit.edu	37	5	90084111	90084111	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr5:90084111A>T	uc003kju.3	+	67	13973	c.13877A>T	c.(13876-13878)aAa>aTa	p.K4626I	GPR98_uc003kjt.3_Missense_Mutation_p.K2332I|GPR98_uc003kjw.3_Missense_Mutation_p.K287I	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	4626					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			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)		TCCAGAGCTAAAGATGTTACA	0.299000														48			15		0	0	0.000422831	0	0
ZNF614	80110	broad.mit.edu	37	19	52521669	52521670	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr19:52521669_52521670GG>AT	uc002pyj.3	-	2	495_496	c.93_94CC>AT	c.(91-96)aacctg>aaATtg	p.N31K	ZNF614_uc002pyi.4_Missense_Mutation_p.N31K|ZNF614_uc010epj.3_5'UTR	NM_025040	NP_079316	Q8N883	ZN614_HUMAN	Homo sapiens zinc finger protein 614 (ZNF614), mRNA.	31	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		TCCCGGTACAGGTTCTTCTGAG	0.500000														33			36		0	0	6.4e-05	0	0
C14orf21	161424	broad.mit.edu	37	14	24771298	24771298	+	Silent	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr14:24771298C>T	uc001wol.1	+	3	999	c.936C>T	c.(934-936)tcC>tcT	p.S312S	C14orf21_uc001wom.1_5'Flank|DHRS1_uc001woj.2_5'Flank|DHRS1_uc001wok.3_5'Flank	NM_174913	NP_777573	Q86U38	CN021_HUMAN	Homo sapiens chromosome 14 open reading frame 21 (C14orf21), mRNA.	312							RNA binding			breast(3)|central_nervous_system(2)|large_intestine(3)|liver(1)|lung(3)|prostate(2)|skin(3)	17				GBM - Glioblastoma multiforme(265;0.0185)		CTCGCGGTTCCTCAGTAGATG	0.498000														38			58		0	0	0.000781405	0	0
PDK2	5164	broad.mit.edu	37	17	48184467	48184467	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr17:48184467G>A	uc002iqc.3	+	5	796	c.635G>A	c.(634-636)tGt>tAt	p.C212Y	PDK2_uc002iqb.3_Missense_Mutation_p.C148Y|PDK2_uc021tzx.1_Missense_Mutation_p.C148Y	NM_002611	NP_001186828	Q15119	PDK2_HUMAN	Homo sapiens pyruvate dehydrogenase kinase, isozyme 2 (PDK2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	212	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|nucleus	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	20						AAGCTCCTGTGTGACAAGTAT	0.567000									Autosomal Dominant Polycystic Kidney Disease					74			12		0	0	0.000308642	0	0
C1orf173	127254	broad.mit.edu	37	1	75037720	75037720	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr1:75037720C>T	uc001dgg.3	-	13	3893	c.3674G>A	c.(3673-3675)gGa>gAa	p.G1225E		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	1225	Glu-rich.							p.G1225E(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CTGCACCTTTCCTGCTGGCTC	0.627000														50			13		0	0	0.000151284	0	0
GPI	2821	broad.mit.edu	37	19	34887329	34887329	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr19:34887329C>T	uc002nvf.3	+	13	1473	c.1303C>T	c.(1303-1305)Cac>Tac	p.H435Y	GPI_uc010xrv.2_Missense_Mutation_p.H407Y|GPI_uc002nvg.2_Missense_Mutation_p.H396Y|GPI_uc010xrw.2_Missense_Mutation_p.H368Y|GPI_uc002nvi.2_Missense_Mutation_p.H59Y	NM_000175	NP_000166	P06744	G6PI_HUMAN	Homo sapiens glucose-6-phosphate isomerase (GPI), transcript variant 2, mRNA.	396					angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					CCAGCTCATCCACCAAGGTAG	0.567000														27			15		0	0	0.000308642	0	0
PGA5	5222	broad.mit.edu	37	11	61017253	61017253	+	Missense_Mutation	SNP	G	A	A	rs139795742		TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr11:61017253G>A	uc001nqz.3	+	6	941	c.886G>A	c.(886-888)Gac>Aac	p.D296N		NM_014224	NP_055039	P00790	PEPA_HUMAN	Homo sapiens pepsinogen 5, group I (pepsinogen A) (PGA5), mRNA.	296					digestion|proteolysis	extracellular region	aspartic-type endopeptidase activity			large_intestine(1)|skin(1)	2						CATCCAGAGCGACATCGGAGC	0.612000														128			51		0	0	0.000781405	0	0
CRIM1	51232	broad.mit.edu	37	2	36691751	36691751	+	Missense_Mutation	SNP	G	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr2:36691751G>T	uc002rpd.3	+	4	1010	c.944G>T	c.(943-945)gGc>gTc	p.G315V		NM_016441	NP_057525	Q9NZV1	CRIM1_HUMAN	Homo sapiens cysteine rich transmembrane BMP regulator 1 (chordin-like) (CRIM1), mRNA.	315					nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity	p.G315G(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				GTCTCTCGTGGCGATGGGACA	0.498000														128			26		1.66031e-10	1.70502e-09	0.000586117	1	0
AY455283	0	broad.mit.edu	37	12	8048124	8048124	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr12:8048124C>T	uc001qtp.1	+	1	112	c.32C>T	c.(31-33)tCt>tTt	p.S11F						SubName: Full=Uncharacterized protein;																		AGCCATGATTCTTCCACCAGT	0.438000														63			36		0	0	0.000509022	0	0
SLC24A3	57419	broad.mit.edu	37	20	19261652	19261652	+	Silent	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr20:19261652G>A	uc002wrl.3	+	1	389	c.192G>A	c.(190-192)gcG>gcA	p.A64A	LOC100130264_uc010zsd.1_Intron	NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 (SLC24A3), mRNA.	64						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GGATGATGGCGAGGAAGCTGA	0.522000														8			31		0	0	0.000339439	0	0
CD2	914	broad.mit.edu	37	1	117311185	117311185	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr1:117311185C>T	uc001egu.4	+	4	865	c.836C>T	c.(835-837)tCc>tTc	p.S279F		NM_001767	NP_001758	P06729	CD2_HUMAN	Homo sapiens CD2 molecule (CD2), mRNA.	279					T cell activation|blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation	integral to plasma membrane	receptor activity			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	CCAGCAACTTCCCAACATCCT	0.582000														4			19		0	0	0.000958276	0	0
EMILIN2	84034	broad.mit.edu	37	18	2892139	2892139	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr18:2892139G>A	uc002kln.3	+	3	2173	c.2014G>A	c.(2014-2016)Gag>Aag	p.E672K		NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN	Homo sapiens elastin microfibril interfacer 2 (EMILIN2), mRNA.	672					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		TCAGCTGGAGGAGAGGTGGCA	0.612000														56			20		0	0	0.000175454	0	0
KRT12	3859	broad.mit.edu	37	17	39019850	39019850	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr17:39019850G>A	uc002hvk.2	-	4	1006	c.982C>T	c.(982-984)Cgt>Tgt	p.R328C		NM_000223	NP_000214	Q99456	K1C12_HUMAN	Homo sapiens keratin 12 (KRT12), mRNA.	328	Coil 2.|Rod.				visual perception	intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)				ATCTCCTTACGGAGCTCCCCG	0.567000														49			17		0	0	0.000422831	0	0
MGC16703	113691	broad.mit.edu	37	22	21363392	21363392	+	RNA	SNP	G	A	A	rs28522842	by1000genomes	TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr22:21363392G>A	uc002zty.4	-	2		c.1064C>T			MGC16703_uc010gss.2_Non-coding_Transcript|THAP7-AS1_uc002ztv.3_Non-coding_Transcript					Homo sapiens tubulin, alpha pseudogene (MGC16703), non-coding RNA.																		GGGCCCCATCGAATCACAGGG	0.562000														33			10		0	0	0.000673444	0	0
ITGB2	3689	broad.mit.edu	37	21	46323296	46323297	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr21:46323296_46323297GG>AA	uc002zgd.2	-	3	526_527	c.482_483CC>TT	c.(481-483)acc>aTT	p.T161I	ITGB2_uc002zgf.3_Missense_Mutation_p.T161I|ITGB2_uc011afl.1_Missense_Mutation_p.T83I|ITGB2_uc010gpw.2_Intron|ITGB2_uc002zgg.2_Missense_Mutation_p.T161I	NM_001127491	NP_001120963	P05107	ITB2_HUMAN	Homo sapiens integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) (ITGB2), transcript variant 2, mRNA.	161	VWFA.				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	GGCCGGACTCGGTGATCTCGTT	0.594000														47			32		0	0	6.4e-05	0	0
TRBV7-6	28592	broad.mit.edu	37	7	142139544	142139544	+	Silent	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr7:142139544G>A	uc003vyt.3	-	1	126	c.81C>T	c.(79-81)ccC>ccT	p.P27P	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TRBV7-6_uc011krv.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		CTTTGTACCTGGGAGACTGGG	0.493000														36			13		0	0	0.000219431	0	0
MAGED1	9500	broad.mit.edu	37	X	51638164	51638164	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chrX:51638164G>A	uc004dpn.3	+	3	419	c.229G>A	c.(229-231)Gaa>Aaa	p.E77K	MAGED1_uc004dpm.3_Missense_Mutation_p.E21K|MAGED1_uc004dpo.3_Missense_Mutation_p.E21K|MAGED1_uc011mnx.1_Missense_Mutation_p.E21K	NM_001005333	NP_001005333	Q9Y5V3	MAGD1_HUMAN	Homo sapiens melanoma antigen family D, 1 (MAGED1), transcript variant 1, mRNA.	21					apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					GGCCTCCGTAGAAGACAGCGC	0.592000										Multiple Myeloma(10;0.10)				2			15		0	0	0.000308642	0	0
SLC6A3	6531	broad.mit.edu	37	5	1441597	1441597	+	Silent	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr5:1441597G>A	uc003jck.3	-	2	421	c.295C>T	c.(295-297)Ctg>Ttg	p.L99L		NM_001044	NP_001035	Q01959	SC6A3_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 (SLC6A3), mRNA.	99					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	TAGGGGACCAGGAAGGCACCT	0.602000														35			20		0	0	0.000375601	0	0
ZPLD1	131368	broad.mit.edu	37	3	102176642	102176642	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr3:102176642C>T	uc003dvt.1	+	4	675	c.575C>T	c.(574-576)tCt>tTt	p.S192F	ZPLD1_uc003dvs.1_Missense_Mutation_p.S176F|ZPLD1_uc011bhg.1_Missense_Mutation_p.S176F	NM_175056	NP_778226	Q8TCW7	ZPLD1_HUMAN	Homo sapiens zona pellucida-like domain containing 1 (ZPLD1), mRNA.	176	ZP.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						GCGGCTATTTCTGTGAGAGAG	0.373000														74			58		0	0	0.000781405	0	0
FLJ38723	0	broad.mit.edu	37	15	62539289	62539289	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr15:62539289C>T	uc002ajj.1	-	4	391	c.383G>A	c.(382-384)aGa>aAa	p.R128K	FLJ38723_uc002ain.1_Non-coding_Transcript|DQ575559_uc010uhp.1_Non-coding_Transcript|DQ572791_uc002ajt.3_5'Flank|DQ583624_uc021sof.1_5'Flank|DQ596164_uc021sog.1_5'Flank|DQ590682_uc002ajw.3_5'Flank|DQ578824_uc010uhq.2_5'Flank|DQ573543_uc002ajx.3_5'Flank|DQ596057_uc002ajy.3_5'Flank					RecName: Full=Golgin subfamily A member 2-like protein 4;																		GCTGTGCACTCTCTCCTCCCT	0.612000														11			7		0	0	0.000157383	0	0
ITGB4	3691	broad.mit.edu	37	17	73745079	73745079	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr17:73745079C>T	uc002jpg.3	+	26	3456	c.3269C>T	c.(3268-3270)gCc>gTc	p.A1090V	ITGB4_uc002jph.3_Missense_Mutation_p.A1090V|ITGB4_uc002jpi.4_Missense_Mutation_p.A1090V|ITGB4_uc002jpj.3_Missense_Mutation_p.A1090V	NM_000213	NP_000204	P16144	ITB4_HUMAN	Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA.	1090					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			AAGTTTGGGGCCCACCTGGGC	0.647000														37			15		0	0	0.000566183	0	0
TMEM17	200728	broad.mit.edu	37	2	62728427	62728427	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr2:62728427G>A	uc002sbt.2	-	3	854	c.514C>T	c.(514-516)Cgt>Tgt	p.R172C	TMEM17_uc002sbu.2_3'UTR|TMEM17_uc002sbv.1_3'UTR	NM_198276	NP_938017	Q86X19	TMM17_HUMAN	Homo sapiens transmembrane protein 17 (TMEM17), mRNA.	172						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9	Lung NSC(7;0.0274)|all_lung(7;0.0568)		LUSC - Lung squamous cell carcinoma(7;1.31e-05)|Epithelial(17;0.169)			AGGTGGAAACGAACTGCCAAC	0.428000														111			20		0	0	0.000132079	0	0
ATP13A3	79572	broad.mit.edu	37	3	194146149	194146149	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr3:194146149T>A	uc003fty.4	-	28	3637	c.3235A>T	c.(3235-3237)Att>Ttt	p.I1079F	ATP13A3_uc003ftx.4_5'UTR	NM_024524	NP_078800	Q9H7F0	AT133_HUMAN	Homo sapiens ATPase type 13A3 (ATP13A3), mRNA.	1079					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		AAACTGGAAATAAAAAACACT	0.348000														33			33		0	0	0.000339439	0	0
DUOXA1	90527	broad.mit.edu	37	15	45413409	45413409	+	Silent	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr15:45413409G>A	uc001zup.3	-	5	616	c.216C>T	c.(214-216)ttC>ttT	p.F72F	DUOXA1_uc010uem.2_Intron|DUOXA1_uc010bec.3_Silent_p.F72F|DUOXA1_uc001zuq.1_Silent_p.F72F|DUOXA1_uc001zur.1_Intron|DUOXA1_uc010bed.1_Intron	NM_144565	NP_653166	Q1HG43	DOXA1_HUMAN	Homo sapiens dual oxidase maturation factor 1 (DUOXA1), mRNA.	72					protein transport	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(109;6.02e-08)|all_epithelial(112;1.83e-06)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.82e-18)|GBM - Glioblastoma multiforme(94;4.39e-07)|COAD - Colon adenocarcinoma(120;0.0676)|Colorectal(133;0.0686)		ACTCAGAACTGAAATTCACAG	0.512000														23			12		0	0	0.000151284	0	0
C6	729	broad.mit.edu	37	5	41181509	41181509	+	Silent	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr5:41181509G>A	uc003jmk.2	-	6	1089	c.879C>T	c.(877-879)atC>atT	p.I293I	C6_uc003jml.1_Silent_p.I293I	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	293	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	p.I293I(2)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				AATTATGGTTGATATTTTCAC	0.358000														82			25		0	0	0.000878237	0	0
PDK3	5165	broad.mit.edu	37	X	24521592	24521592	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chrX:24521592A>G	uc004dbg.3	+	3	698	c.469A>G	c.(469-471)Aac>Gac	p.N157D	PDK3_uc004dbh.3_Missense_Mutation_p.N157D	NM_005391	NP_005382	Q15120	PDK3_HUMAN	Homo sapiens pyruvate dehydrogenase kinase, isozyme 3 (PDK3), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	157	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						GTTTTATACCAACCGCATCTC	0.383000														11			22		0	0	0.000295444	0	0
ILF3	3609	broad.mit.edu	37	19	10794134	10794134	+	Silent	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr19:10794134C>T	uc002mpn.3	+	14	2084	c.1767C>T	c.(1765-1767)ttC>ttT	p.F589F	ILF3_uc010xli.1_Silent_p.F187F|ILF3_uc002mpm.2_Silent_p.F593F|ILF3_uc002mpl.2_Silent_p.F589F|ILF3_uc002mpk.2_Silent_p.F589F|ILF3_uc002mpo.3_Silent_p.F593F|ILF3_uc002mpp.3_Silent_p.F414F|ILF3_uc002mpq.3_5'Flank	NM_012218	NP_036350	Q12906	ILF3_HUMAN	Homo sapiens interleukin enhancer binding factor 3, 90kDa (ILF3), transcript variant 1, mRNA.	589	DRBM 2.				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			AAAAGCTTTTCCCTGACACCC	0.542000														16			19		0	0	0.00074312	0	0
ZC3HAV1	56829	broad.mit.edu	37	7	138764305	138764305	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr7:138764305C>T	uc003vun.3	-	3	1770	c.1382G>A	c.(1381-1383)aGg>aAg	p.R461K	ZC3HAV1_uc003vuo.3_5'Flank|ZC3HAV1_uc003vup.3_Missense_Mutation_p.R461K	NM_020119	NP_064504	Q7Z2W4	ZCCHV_HUMAN	Homo sapiens zinc finger CCCH-type, antiviral 1 (ZC3HAV1), transcript variant 1, mRNA.	461					response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						ATCCTGAATCCTAGGTGATGA	0.438000														81			32		0	0	0.000339439	0	0
SPTBN5	51332	broad.mit.edu	37	15	42160315	42160315	+	Silent	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr15:42160315G>A	uc001zos.3	-	33	6387	c.6054C>T	c.(6052-6054)ctC>ctT	p.L2018L	MIR4310_uc021sjo.1_5'Flank	NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA.	2053					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)		CTCTGAGGAAGAGCTGCTCCT	0.662000														8			3		0	0	6.4e-05	0	0
INHBA	3624	broad.mit.edu	37	7	41730107	41730107	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr7:41730107G>A	uc003thq.3	-	1	657	c.422C>T	c.(421-423)tCc>tTc	p.S141F	INHBA_uc003thr.3_Missense_Mutation_p.S141F	NM_002192	NP_002183	P08476	INHBA_HUMAN	Homo sapiens inhibin, beta A (INHBA), mRNA.	141					G1/S transition of mitotic cell cycle|cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						GCCTTCCTTGGAAATCTCGAA	0.507000										TSP Lung(11;0.080)				28			15		0	0	0.000219431	0	0
DSP	1832	broad.mit.edu	37	6	7583534	7583534	+	Silent	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr6:7583534G>A	uc003mxp.1	+	23	6318	c.6039G>A	c.(6037-6039)cgG>cgA	p.R2013R	DSP_uc003mxq.1_Silent_p.R1414R|DSP_uc021yle.1_Silent_p.R1570R	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	2013	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CATTCCTTCGGGGTGCAGGAT	0.448000														49			28		0	0	0.000720815	0	0
PRR23C	389152	broad.mit.edu	37	3	138763024	138763024	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr3:138763024C>T	uc011bmt.1	-	0	711	c.439G>A	c.(439-441)Gag>Aag	p.E147K		NM_001134657	NP_001128129	Q6ZRP0	PR23C_HUMAN	Homo sapiens proline rich 23C (PRR23C), mRNA.	147										breast(2)|lung(7)|skin(2)	11						GCAGCGATCTCTGGGACAGAT	0.662000														7			4		0	0	0.000602214	0	0
SYNGAP1	8831	broad.mit.edu	37	6	33403030	33403030	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr6:33403030C>T	uc011dri.2	+	5	806	c.611C>T	c.(610-612)tCc>tTc	p.S204F	SYNGAP1_uc003oeo.1_Missense_Mutation_p.S189F|SYNGAP1_uc010juy.3_Missense_Mutation_p.S189F|SYNGAP1_uc010juz.3_5'Flank	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN	Homo sapiens synaptic Ras GTPase activating protein 1 (SYNGAP1), mRNA.	204	PH.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						GATGAAGATTCCATTATCAAG	0.547000														40			49		0	0	0.000781405	0	0
GORASP2	26003	broad.mit.edu	37	2	171819372	171819372	+	Missense_Mutation	SNP	C	G	G			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr2:171819372C>G	uc002ugk.3	+	8	1749	c.934C>G	c.(934-936)Ctg>Gtg	p.L312V	GORASP2_uc002ugj.3_Missense_Mutation_p.L244V|GORASP2_uc010zdl.2_Missense_Mutation_p.L324V|GORASP2_uc010zdm.2_Missense_Mutation_p.L268V|GORASP2_uc002ugl.3_Missense_Mutation_p.L244V|GORASP2_uc002ugm.3_Missense_Mutation_p.L94V	NM_015530	NP_056345	Q9H8Y8	GORS2_HUMAN	Homo sapiens golgi reassembly stacking protein 2, 55kDa (GORASP2), transcript variant 1, mRNA.	312	Pro-rich.					Golgi membrane				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14						ACCAGCAGGACTGCCCAACCT	0.468000														27			8		0	0	0.000673444	0	0
EPO	2056	broad.mit.edu	37	7	100320459	100320459	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr7:100320459G>A	uc003uwi.3	+	3	600	c.419G>A	c.(418-420)gGa>gAa	p.G140E	EPO_uc011kkc.1_Missense_Mutation_p.G140E	NM_000799	NP_000790	P01588	EPO_HUMAN	Homo sapiens erythropoietin (EPO), mRNA.	140				G -> R (in Ref. 1; CAA26095).	blood circulation|cellular hyperosmotic response|erythrocyte maturation|negative regulation of apoptosis|negative regulation of ion transmembrane transporter activity|negative regulation of sodium ion transport|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat5 protein|signal transduction	extracellular space	erythropoietin receptor binding|eukaryotic cell surface binding|hormone activity			central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1)	12	Lung NSC(181;0.041)|all_lung(186;0.0581)				Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)	CGGGCTCTGGGAGCCCAGGTG	0.577000														42			7		0	0	8.12818e-05	0	0
NPHS1	4868	broad.mit.edu	37	19	36334397	36334398	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr19:36334397_36334398CC>TT	uc002oby.3	-	16	2466_2467	c.2310_2311GG>AA	c.(2308-2313)ccgggc>ccAAgc	p.G771S		NM_004646	NP_004637	O60500	NPHN_HUMAN	Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA.	771	Ig-like C2-type 7.				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)			TTGAACATGCCCGGGAGGATGG	0.574000														47			48		0	0	6.4e-05	0	0
EVI5	7813	broad.mit.edu	37	1	93201978	93201978	+	Silent	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr1:93201978C>T	uc010otf.2	-	1	268	c.258G>A	c.(256-258)ctG>ctA	p.L86L	EVI5_uc001dox.3_Silent_p.L86L	NM_005665	NP_005656	O60447	EVI5_HUMAN	Homo sapiens ecotropic viral integration site 5 (EVI5), mRNA.	86	Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Ser-rich.				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	Rab GTPase activator activity|protein binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		CCAGTTTAGCCAGGAGTTCTA	0.403000														37			6		0	0	3.59834e-05	0	0
ZFP64	55734	broad.mit.edu	37	20	50768918	50768918	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr20:50768918T>C	uc002xwl.3	-	5	2162	c.1813A>G	c.(1813-1815)Acc>Gcc	p.T605A	ZFP64_uc002xwk.3_Intron|ZFP64_uc002xwm.3_Missense_Mutation_p.T603A|ZFP64_uc002xwn.3_Missense_Mutation_p.T551A	NM_018197	NP_060667	Q9NPA5	ZF64A_HUMAN	Homo sapiens zinc finger protein 64 homolog (mouse) (ZFP64), transcript variant 1, mRNA.	605					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						CCCGAACTGGTAATGAAAGTT	0.562000														91			14		0	0	0.000308642	0	0
ZNF434	54925	broad.mit.edu	37	16	3432960	3432960	+	Missense_Mutation	SNP	C	G	G			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr16:3432960C>G	uc002cux.4	-	6	2242	c.1983G>C	c.(1981-1983)agG>agC	p.R661S	ZNF434_uc010uwx.2_Missense_Mutation_p.R373S|ZNF434_uc002cuy.4_Missense_Mutation_p.R373S|ZNF434_uc002cuz.3_Missense_Mutation_p.R450S	NM_017810	NP_060280	Q9NX65	ZN434_HUMAN	Homo sapiens zinc finger protein 434 (ZNF434), mRNA.	450					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						AGTGAGAACACCTGTAAGGCT	0.493000														49			16		0	0	0.000308642	0	0
ESPNP	284729	broad.mit.edu	37	1	17030538	17030538	+	Silent	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr1:17030538C>T	uc001azn.1	-	4	798	c.684G>A	c.(682-684)caG>caA	p.Q228Q						Homo sapiens espin pseudogene (ESPNP), non-coding RNA.																		AGTTCAGAGGCTGGACCGACA	0.632000														71			6		0	0	3.59834e-05	0	0
KIF12	113220	broad.mit.edu	37	9	116857517	116857517	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr9:116857517C>T	uc004bif.3	-	6	815	c.577G>A	c.(577-579)Gga>Aga	p.G193R	KIF12_uc004big.3_Non-coding_Transcript	NM_138424	NP_612433	Q96FN5	KIF12_HUMAN	Homo sapiens kinesin family member 12 (KIF12), mRNA.	326	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						CCGCGCCCTCCCAGTGAGTCT	0.642000														13			31		0	0	0.00111076	0	0
MYO3B	140469	broad.mit.edu	37	2	171256757	171256757	+	Silent	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr2:171256757C>T	uc002ufy.3	+	16	1994	c.1851C>T	c.(1849-1851)ttC>ttT	p.F617F	MYO3B_uc002ufv.3_Silent_p.F604F|MYO3B_uc010fqb.1_Silent_p.F617F|MYO3B_uc002ufz.3_Silent_p.F617F|MYO3B_uc002ufw.3_Non-coding_Transcript|MYO3B_uc002ufx.3_Non-coding_Transcript|MYO3B_uc002ugb.3_Non-coding_Transcript	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	Homo sapiens myosin IIIB (MYO3B), transcript variant 2, mRNA.	617	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	ATP binding|actin binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						ACATTGAGTTCGCAGCTATTT	0.403000														72			63		0	0	0.000781405	0	0
UFM1	51569	broad.mit.edu	37	13	38924147	38924147	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr13:38924147C>T	uc001uwu.3	+	1	129	c.14C>T	c.(13-15)tCc>tTc	p.S5F	UFM1_uc010abz.2_Missense_Mutation_p.S5F|UFM1_uc010aca.2_Missense_Mutation_p.S5F	NM_016617	NP_057701	P61960	UFM1_HUMAN	Homo sapiens ubiquitin-fold modifier 1 (UFM1), mRNA.	5					protein ufmylation	cytoplasm|nucleus	protein binding			lung(2)|ovary(1)	3		Lung NSC(96;3.18e-06)|Prostate(109;0.00314)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;1.05e-08)|Epithelial(112;1.44e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000855)|BRCA - Breast invasive adenocarcinoma(63;0.00342)|GBM - Glioblastoma multiforme(144;0.0132)		TCGAAGGTTTCCTTTAAGATC	0.582000														26			31		0	0	0.000409698	0	0
APCS	325	broad.mit.edu	37	1	159557901	159557901	+	Silent	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr1:159557901G>A	uc001ftv.3	+	1	171	c.75G>A	c.(73-75)ggG>ggA	p.G25G		NM_001639	NP_001630	P02743	SAMP_HUMAN	Homo sapiens amyloid P component, serum (APCS), mRNA.	25	Pentaxin.				acute-phase response|chaperone-mediated protein complex assembly|protein folding	extracellular space	metal ion binding|sugar binding|unfolded protein binding	p.G25W(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					ACCTCAGTGGGAAGGTGTTTG	0.393000														21			43		0	0	0.000374591	0	0
METTL22	79091	broad.mit.edu	37	16	8729067	8729067	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr16:8729067C>T	uc002cyz.3	+	4	874	c.598C>T	c.(598-600)Cga>Tga	p.R200*	METTL22_uc021tcq.1_Non-coding_Transcript	NM_024109	NP_077014	Q9BUU2	MET22_HUMAN	Homo sapiens methyltransferase like 22 (METTL22), mRNA.	200							methyltransferase activity			large_intestine(5)|lung(4)	9						CATCCTGTTCCGACAGGACCT	0.637000														29			27		0	0	0.000720815	0	0
PI4KA	5297	broad.mit.edu	37	22	21088363	21088363	+	Silent	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr22:21088363G>A	uc002zsz.4	-	33	4107	c.3846C>T	c.(3844-3846)aaC>aaT	p.N1282N	PI4KA_uc002zsy.4_Silent_p.N92N	NM_058004	NP_477352	P42356	PI4KA_HUMAN	Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha (PI4KA), transcript variant 1, mRNA.	1282					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			CCACGTGCCGGTTCATGCTCC	0.632000														12			11		0	0	0.00010058	0	0
RHOV	171177	broad.mit.edu	37	15	41165488	41165488	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr15:41165488C>T	uc001znd.3	-	2	629	c.479G>A	c.(478-480)gGg>gAg	p.G160E		NM_133639	NP_598378	Q96L33	RHOV_HUMAN	Homo sapiens ras homolog gene family, member V (RHOV), mRNA.	160					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome membrane|plasma membrane	GTP binding|metal ion binding			central_nervous_system(1)|large_intestine(1)	2		all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.58e-05)|COAD - Colon adenocarcinoma(120;0.149)|BRCA - Breast invasive adenocarcinoma(123;0.163)		CTCCCGGCCCCCCTGGTCCAG	0.662000														66			18		0	0	0.000132079	0	0
SLC24A4	123041	broad.mit.edu	37	14	92911661	92911661	+	Splice_Site	SNP	T	C	C			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr14:92911661T>C	uc001yak.3	+	8	681	c.658_splice	c.e8-1	p.F220_splice	SLC24A4_uc001yai.3_Splice_Site_p.F156_splice|SLC24A4_uc010twm.2_Splice_Site_p.F220_splice|SLC24A4_uc010auj.3_Splice_Site_p.F111_splice|SLC24A4_uc010twn.2_Splice_Site	NM_153646	NP_705932	Q8NFF2	NCKX4_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 (SLC24A4), transcript variant 1, mRNA.	220						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		TGCCTTACAGTTCATATATGA	0.388000														96			35		0	0	0.000319135	0	0
PCDHB16	57717	broad.mit.edu	37	5	140562580	140562580	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr5:140562580G>A	uc003liv.3	+	0	1601	c.446G>A	c.(445-447)gGa>gAa	p.G149E		NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	Homo sapiens protocadherin beta 16 (PCDHB16), mRNA.	149	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGTCCTCTAGGAACTGAGTTC	0.393000														19			31		0	0	0.000339439	0	0
MYO18B	84700	broad.mit.edu	37	22	26222395	26222395	+	Silent	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr22:26222395G>A	uc003abz.1	+	13	2965	c.2715G>A	c.(2713-2715)gtG>gtA	p.V905V	MYO18B_uc003aca.1_Silent_p.V786V|MYO18B_uc010guy.1_Silent_p.V786V|MYO18B_uc010guz.1_Silent_p.V786V|MYO18B_uc011aka.1_Silent_p.V59V|MYO18B_uc011akb.1_Silent_p.V418V	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	905	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TGACAGGAGTGGACTGTGTGG	0.562000														153			42		0	0	0.000781405	0	0
PELI2	57161	broad.mit.edu	37	14	56755313	56755313	+	Silent	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr14:56755313C>T	uc001xch.3	+	3	754	c.468C>T	c.(466-468)ttC>ttT	p.F156F		NM_021255	NP_067078	Q9HAT8	PELI2_HUMAN	Homo sapiens pellino homolog 2 (Drosophila) (PELI2), mRNA.	156					MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	protein binding			kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						CACGGATATTCGCCGCCGGAT	0.458000														21			5		0	0	0.000602214	0	0
MED23	9439	broad.mit.edu	37	6	131912565	131912565	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr6:131912565C>T	uc003qcs.1	-	25	3748	c.3574G>A	c.(3574-3576)Gat>Aat	p.D1192N	MED23_uc003qcq.3_Missense_Mutation_p.D1198N|MED23_uc003qcr.1_Missense_Mutation_p.D47N	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN	Homo sapiens mediator complex subunit 23 (MED23), transcript variant 1, mRNA.	1192					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity	p.D1192Y(2)|p.D1198Y(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		GCAGTGAAATCAAAGAGGCGG	0.473000														39			10		0	0	0.000673444	0	0
SYNE1	23345	broad.mit.edu	37	6	152719759	152719759	+	Missense_Mutation	SNP	G	C	C			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr6:152719759G>C	uc021zhb.1	-	46	7568	c.7345C>G	c.(7345-7347)Ctt>Gtt	p.L2449V	SYNE1_uc003qot.4_Missense_Mutation_p.L2456V|SYNE1_uc003qou.4_Missense_Mutation_p.L2449V|SYNE1_uc010kjb.1_Missense_Mutation_p.L2432V	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	2449					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	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)		TATACCTGAAGATCATGGAGC	0.448000										HNSCC(10;0.0054)				45			11		0	0	0.000673444	0	0
TNN	63923	broad.mit.edu	37	1	175066699	175066699	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr1:175066699G>A	uc001gkl.1	+	7	1848	c.1735G>A	c.(1735-1737)Ggg>Agg	p.G579R	TNN_uc010pmx.1_Intron	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	579	Fibronectin type-III 4.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GGTTCTGGTGGGGAAGGAGCA	0.607000														34			11		0	0	0.000151284	0	0
AV4S1	0	broad.mit.edu	37	14	22671215	22671215	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr14:22671215C>T	uc021rpv.1	+	1	270	c.235C>T	c.(235-237)Cgt>Tgt	p.R79C	TCRA_uc001wbw.2_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc001wdd.2_Intron|TCRA_uc010ajj.1_Intron|TCRA_uc001wde.1_Intron|TCRA_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc010ajl.1_Intron|AV4S1_uc010ajm.2_Non-coding_Transcript					Homo sapiens mRNA for T cell receptor alpha variable 26, partial cds, clone: SEB 320.																		GATCCTGCACCGTGCTACCTT	0.502000														13			5		0	0	0.000602214	0	0
JMJD1C	221037	broad.mit.edu	37	10	65024429	65024429	+	Silent	SNP	A	G	G			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr10:65024429A>G	uc001jmn.3	-	2	729	c.429T>C	c.(427-429)agT>agC	p.S143S	JMJD1C_uc001jml.3_Intron|JMJD1C_uc001jmm.3_5'UTR|JMJD1C_uc010qiq.2_5'UTR|JMJD1C_uc009xpi.3_5'UTR|JMJD1C_uc009xpj.2_Intron|JMJD1C_uc001jmp.1_5'UTR	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	Homo sapiens jumonji domain containing 1C (JMJD1C), transcript variant 1, mRNA.	143					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					GCTGAAAGGCACTATCTTCAG	0.313000														49			17		0	0	0.000566183	0	0
LRRC56	115399	broad.mit.edu	37	11	541582	541582	+	Nonsense_Mutation	SNP	G	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr11:541582G>T	uc010qvz.2	+	4	728	c.223G>T	c.(223-225)Gag>Tag	p.E75*		NM_198075	NP_932341	Q8IYG6	LRC56_HUMAN	Homo sapiens leucine rich repeat containing 56 (LRRC56), mRNA.	75										kidney(1)|lung(4)|skin(1)	6		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GAGGACGCTGGAGATGTGTGT	0.642000														31			19		3.10358e-05	0.00031635	0.000295444	1	0
TOMM40L	84134	broad.mit.edu	37	1	161198560	161198560	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr1:161198560C>T	uc001fzd.3	+	8	969	c.740C>T	c.(739-741)tCc>tTc	p.S247F	TOMM40L_uc010pkl.1_Missense_Mutation_p.S213F|TOMM40L_uc009wue.3_Missense_Mutation_p.S129F|TOMM40L_uc009wuf.2_Non-coding_Transcript|TOMM40L_uc001fze.3_Missense_Mutation_p.S247F	NM_032174	NP_115550	Q969M1	TM40L_HUMAN	Homo sapiens translocase of outer mitochondrial membrane 40 homolog (yeast)-like (TOMM40L), nuclear gene encoding mitochondrial protein, mRNA.	247					protein transport	mitochondrial outer membrane|pore complex	porin activity|voltage-gated anion channel activity			large_intestine(2)|liver(4)|lung(4)	10	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			ACAACATTCTCCTTTGGTTAC	0.493000														36			9		0	0	0.000978159	0	0
MTTP	4547	broad.mit.edu	37	4	100521847	100521847	+	Missense_Mutation	SNP	G	C	C			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr4:100521847G>C	uc011cej.2	+	8	1287	c.1274G>C	c.(1273-1275)gGa>gCa	p.G425A	MTTP_uc003hvc.4_Missense_Mutation_p.G398A	NM_000253	NP_000244	P55157	MTP_HUMAN	Homo sapiens microsomal triglyceride transfer protein (MTTP), mRNA.	398	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	TATGCCTGTGGATTTGCTTCT	0.393000														10			17		0	0	0.000132079	0	0
AQP3	360	broad.mit.edu	37	9	33442339	33442339	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr9:33442339G>A	uc003zsx.3	-	4	773	c.670C>T	c.(670-672)Ctt>Ttt	p.L224F	AQP3_uc010mju.3_Intron|AQP3_uc003zsv.2_3'UTR	NM_004925	NP_004916	Q92482	AQP3_HUMAN	Homo sapiens aquaporin 3 (Gill blood group) (AQP3), mRNA.	224					excretion|odontogenesis|positive regulation of immune system process|regulation of keratinocyte differentiation|response to calcium ion|response to retinoic acid|response to vitamin D	basolateral plasma membrane|cell-cell junction|cytoplasm	glycerol channel activity|water channel activity			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.0899)		GCTGTAAAAAGGCGGGGGCCA	0.662000														9			15		0	0	0.00074312	0	0
GIMAP8	155038	broad.mit.edu	37	7	150164156	150164156	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr7:150164156G>A	uc003whj.3	+	1	700	c.370G>A	c.(370-372)Gaa>Aaa	p.E124K		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	124						Golgi apparatus|endoplasmic reticulum|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		GTTTGGAGCTGAAGCCAGGAG	0.478000														30			23		0	0	0.000295444	0	0
ARMC4	55130	broad.mit.edu	37	10	28101489	28101489	+	Silent	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr10:28101489G>A	uc009xky.3	-	19	3185	c.3087C>T	c.(3085-3087)tcC>tcT	p.S1029S	ARMC4_uc010qds.2_Missense_Mutation_p.P595L|ARMC4_uc010qdt.2_Silent_p.S721S|ARMC4_uc001itz.3_Silent_p.S1029S	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	1029							binding	p.I1028M(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TGCGGATATTGGATATACAAC	0.458000														88			16		0	0	0.000566183	0	0
CASS4	57091	broad.mit.edu	37	20	55027732	55027732	+	Silent	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr20:55027732C>T	uc002xxp.2	+	5	1725	c.1500C>T	c.(1498-1500)gtC>gtT	p.V500V	CASS4_uc002xxq.4_Silent_p.V500V|CASS4_uc010zze.1_Silent_p.V446V|CASS4_uc002xxr.2_Silent_p.V500V|CASS4_uc010gio.2_Intron	NM_001164116	NP_065089	Q9NQ75	CASS4_HUMAN	Homo sapiens Cas scaffolding protein family member 4 (CASS4), transcript variant 1, mRNA.	500					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						CCCGAGGAGTCCATGGGACTG	0.478000														36			45		0	0	0.000680045	0	0
ABCB5	340273	broad.mit.edu	37	7	20683155	20683155	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr7:20683155C>T	uc010kuh.3	+	6	815	c.578C>T	c.(577-579)tCg>tTg	p.S193L		NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	379					regulation of membrane potential	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	p.S193L(1)|p.S193*(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TCTACTTTTTCGATTGGCCTG	0.423000														114			61		0	0	0.000781405	0	0
GPR155	151556	broad.mit.edu	37	2	175306874	175306874	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr2:175306874T>A	uc002uit.3	-	14	2538	c.2147A>T	c.(2146-2148)cAt>cTt	p.H716L	GPR155_uc002uiu.3_Missense_Mutation_p.H716L|GPR155_uc002uiv.3_Missense_Mutation_p.H716L|GPR155_uc010fqs.3_Missense_Mutation_p.H688L	NM_001033045	NP_689742	Q7Z3F1	GP155_HUMAN	Homo sapiens G protein-coupled receptor 155 (GPR155), transcript variant 9, mRNA.	716					intracellular signal transduction|transmembrane transport	integral to membrane				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						GATGATTAAATGTTTATCTAA	0.269000														54			10		0	0	0.000442599	0	0
ASCC2	84164	broad.mit.edu	37	22	30202248	30202248	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr22:30202248C>T	uc003agr.3	-	11	1261	c.1117G>A	c.(1117-1119)Gtg>Atg	p.V373M	ASCC2_uc011akr.2_Missense_Mutation_p.V297M|ASCC2_uc003ags.3_Non-coding_Transcript	NM_032204	NP_115580	Q9H1I8	ASCC2_HUMAN	Homo sapiens activating signal cointegrator 1 complex subunit 2 (ASCC2), transcript variant 1, mRNA.	373					regulation of transcription, DNA-dependent|transcription, DNA-dependent					endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			TCTTCGGCCACGGGGAAGAGT	0.582000														132			17		0	0	0.000175454	0	0
SERPINB2	5055	broad.mit.edu	37	18	61570538	61570538	+	Nonstop_Mutation	SNP	A	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr18:61570538A>T	uc010xeu.2	+	8	1580	c.1247A>T	c.(1246-1248)tAa>tTa	p.*416L	SERPINB2_uc002ljo.3_Nonstop_Mutation_p.*416L|SERPINB2_uc002ljp.1_Intron|SERPINB2_uc002ljq.1_Intron	NM_001143818	NP_002566	P05120	PAI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 2 (SERPINB2), transcript variant 1, mRNA.	0					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	Golgi apparatus|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	TCCTCACCCTAAAACTAAGCG	0.368000														4			9		0	0	0.000978159	0	0
SNUPN	10073	broad.mit.edu	37	15	75890955	75890955	+	Missense_Mutation	SNP	C	G	G			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr15:75890955C>G	uc002ban.3	-	8	917	c.827G>C	c.(826-828)tGg>tCg	p.W276S	SNUPN_uc002bap.3_Missense_Mutation_p.W318S|SNUPN_uc002baq.3_Missense_Mutation_p.W276S|SNUPN_uc002bar.3_Missense_Mutation_p.W276S|SNUPN_uc002bas.3_Missense_Mutation_p.W276S	NM_005701	NP_005692	O95149	SPN1_HUMAN	Homo sapiens snurportin 1 (SNUPN), transcript variant 1, mRNA.	276	Necessary for binding to the m3G-cap structure.				ncRNA metabolic process|protein import into nucleus|spliceosomal snRNP assembly	cytosol|nuclear pore	RNA cap binding|protein transporter activity			endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)	8						GGGGCGCAGCCAGCCCACCAA	0.557000														200			29		0	0	0.000227799	0	0
DCHS2	54798	broad.mit.edu	37	4	155158041	155158041	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr4:155158041G>A	uc003inw.2	-	24	6398	c.6398C>T	c.(6397-6399)tCc>tTc	p.S2133F		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	2133	Cadherin 19.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ACTGATGATGGAATATTCAAC	0.383000														11			20		0	0	0.000958276	0	0
ADH1A	124	broad.mit.edu	37	4	100205660	100205660	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr4:100205660C>T	uc003hur.2	-	4	577	c.463G>A	c.(463-465)Gaa>Aaa	p.E155K	LOC100507053_uc003hum.2_Intron|ADH1A_uc010ilf.1_5'UTR	NM_000667	NP_000658	P07327	ADH1A_HUMAN	Homo sapiens alcohol dehydrogenase 1A (class I), alpha polypeptide (ADH1A), mRNA.	155					ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	ACTGCATTTTCATCCACCACT	0.522000														7			17		0	0	0.000422831	0	0
KIF25	3834	broad.mit.edu	37	6	168445549	168445549	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr6:168445549G>A	uc003qwk.1	+	8	1290	c.1028G>A	c.(1027-1029)aGc>aAc	p.S343N	KIF25_uc003qwl.1_Missense_Mutation_p.S291N	NM_030615	NP_085118	Q9UIL4	KIF25_HUMAN	Homo sapiens kinesin family member 25 (KIF25), transcript variant 1, mRNA.	343					microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		ATTTCTCCCAGCCAGAGGCAC	0.552000														82			18		0	0	0.000229342	0	0
DDX18	8886	broad.mit.edu	37	2	118575276	118575276	+	Missense_Mutation	SNP	G	C	C			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr2:118575276G>C	uc002tlh.1	+	1	441	c.342G>C	c.(340-342)aaG>aaC	p.K114N		NM_006773	NP_006764	Q9NVP1	DDX18_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 (DDX18), mRNA.	114	Poly-Lys.						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						AGAAGAAAAAGAGAAAAATGG	0.348000														87			27		0	0	0.000878237	0	0
LINGO4	339398	broad.mit.edu	37	1	151773683	151773683	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr1:151773683C>T	uc001ezf.1	-	1	1688	c.1498G>A	c.(1498-1500)Gaa>Aaa	p.E500K	LINGO4_uc021oyu.1_Missense_Mutation_p.E500K	NM_001004432	NP_001004432	Q6UY18	LIGO4_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 4 (LINGO4), mRNA.	500	Ig-like C2-type.					integral to membrane				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TGGATGACTTCCAGCCAGGTC	0.572000														65			91		0	0	0.000781405	0	0
BTNL8	79908	broad.mit.edu	37	5	180335890	180335891	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr5:180335890_180335891CC>AA	uc003mmp.3	+	1	588_589	c.354_355CC>AA	c.(352-357)tcccag>tcAAag	p.Q119K	BTNL8_uc003mmq.3_Missense_Mutation_p.Q119K|BTNL8_uc010jll.3_Missense_Mutation_p.Q119K|BTNL8_uc011dhg.2_Intron|BTNL8_uc010jlm.3_Intron|BTNL8_uc011dhh.2_5'Flank	NM_001040462	NP_001153182	Q6UX41	BTNL8_HUMAN	Homo sapiens butyrophilin-like 8 (BTNL8), transcript variant 2, mRNA.	119	Ig-like V-type 1.					integral to membrane		p.Q119K(6)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGATTAGTTCCCAGTCTTACTA	0.465000														394			12		0	0	6.4e-05	0	0
ZNF831	128611	broad.mit.edu	37	20	57768418	57768418	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr20:57768418G>A	uc002yan.3	+	0	2344	c.2344G>A	c.(2344-2346)Gac>Aac	p.D782N		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	782						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)					AGTTTGGCCGGACCCCAAGCT	0.657000														23			7		0	0	0.000274275	0	0
TRA	0	broad.mit.edu	37	14	22180877	22180877	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr14:22180877C>T	uc021roz.1	+	1	157	c.149C>T	c.(148-150)tCt>tTt	p.S50F						Homo sapiens mRNA for T cell receptor alpha variable 2, partial cds, clone: SEB 280.																		TGTAATCACTCTGTGTCCAAT	0.468000														57			109		0	0	0.000781405	0	0
ABCC11	85320	broad.mit.edu	37	16	48227838	48227838	+	Silent	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr16:48227838C>T	uc002eff.1	-	17	2810	c.2460G>A	c.(2458-2460)acG>acA	p.T820T	ABCC11_uc002efg.1_Silent_p.T820T|ABCC11_uc002efh.1_Silent_p.T820T|ABCC11_uc010vgk.1_Non-coding_Transcript	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 11 (ABCC11), transcript variant 2, mRNA.	820	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				AGCTGAAGATCGTTAAGAAGA	0.527000														8			32		0	0	0.000953801	0	0
C6orf15	29113	broad.mit.edu	37	6	31079351	31079351	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr6:31079351C>T	uc003nsk.1	-	1	785	c.785G>A	c.(784-786)gGa>gAa	p.G262E		NM_014070	NP_054789	Q6UXA7	CF015_HUMAN	Homo sapiens chromosome 6 open reading frame 15 (C6orf15), mRNA.	262	Gly-rich.									endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						ATTAATATTTCCCCAGCTGCC	0.502000														102			7		0	0	0.000157383	0	0
ZNF213	7760	broad.mit.edu	37	16	3187371	3187371	+	Silent	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr16:3187371G>A	uc010uws.2	+	1	537	c.90G>A	c.(88-90)caG>caA	p.Q30Q	ZNF213_uc002cud.3_Non-coding_Transcript|ZNF213_uc010btf.3_Silent_p.Q30Q|ZNF213_uc010bth.3_Silent_p.Q30Q|ZNF213_uc010uwt.2_Silent_p.Q30Q	NM_004220	NP_004211	O14771	ZN213_HUMAN	Homo sapiens zinc finger protein 213 (ZNF213), transcript variant 1, mRNA.	30					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						CCTGGGAACAGGAATCTGCCC	0.617000														33			31		0	0	0.000227799	0	0
SDK2	54549	broad.mit.edu	37	17	71386490	71386490	+	Silent	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr17:71386490C>T	uc010dfm.3	-	28	4128	c.4128G>A	c.(4126-4128)acG>acA	p.T1376T	SDK2_uc002jjt.4_Silent_p.T535T|SDK2_uc010dfn.2_Silent_p.T1055T	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	1376	Fibronectin type-III 8.				cell adhesion	integral to membrane		p.T1376M(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GGGTCTGGGCCGTGATGCGGA	0.682000														11			8		0	0	0.000157383	0	0
DNAAF3	352909	broad.mit.edu	37	19	55670814	55670814	+	Silent	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr19:55670814G>A	uc002qjl.1	-	11	1445	c.1443C>T	c.(1441-1443)taC>taT	p.Y481Y	TNNI3_uc002qjg.4_5'Flank|TNNI3_uc010yft.2_5'Flank|DNAAF3_uc002qjh.1_Silent_p.Y229Y|DNAAF3_uc002qji.1_Silent_p.Y414Y|DNAAF3_uc002qjj.1_Silent_p.Y461Y|DNAAF3_uc002qjk.1_Silent_p.Y360Y	NM_178837	NP_849159	Q8N9W5	CS051_HUMAN	Homo sapiens chromosome 19 open reading frame 51 (C19orf51), mRNA.	414																	CGTCCACCAGGTACCTGCAGA	0.627000														53			13		0	0	0.000308642	0	0
LRP1B	53353	broad.mit.edu	37	2	141806610	141806610	+	Silent	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr2:141806610G>A	uc002tvj.1	-	10	2706	c.1734C>T	c.(1732-1734)ttC>ttT	p.F578F	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	578					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)		GGCCAATTAGGAAACTGGTGG	0.428000										TSP Lung(27;0.18)				25			6		0	0	8.12818e-05	0	0
RPAP1	26015	broad.mit.edu	37	15	41826993	41826993	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr15:41826993G>A	uc001zod.3	-	5	806	c.682C>T	c.(682-684)Cat>Tat	p.H228Y		NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN	Homo sapiens RNA polymerase II associated protein 1 (RPAP1), mRNA.	228						nucleus	DNA binding|DNA-directed RNA polymerase activity			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		TTCTCTTCATGGATAGTCTGG	0.582000														26			15		0	0	0.000308642	0	0
COL6A6	131873	broad.mit.edu	37	3	130282243	130282243	+	Silent	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr3:130282243C>T	uc010htl.3	+	1	427	c.396C>T	c.(394-396)ccC>ccT	p.P132P		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	132	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						AACAGTTTCCCCCAATTCTAG	0.507000														21			16		0	0	0.000958276	0	0
ULK4	54986	broad.mit.edu	37	3	41957541	41957541	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr3:41957541G>A	uc003ckv.4	-	7	932	c.731C>T	c.(730-732)tCt>tTt	p.S244F	ULK4_uc003ckw.2_Missense_Mutation_p.S244F|ULK4_uc003ckx.1_Missense_Mutation_p.S244F	NM_017886	NP_060356	Q96C45	ULK4_HUMAN	Homo sapiens unc-51-like kinase 4 (C. elegans) (ULK4), mRNA.	244	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		AGGACGAGAAGAATCTATAAA	0.274000														62			35		0	0	0.000814825	0	0
FCN2	2220	broad.mit.edu	37	9	137778365	137778365	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr9:137778365G>A	uc004cfg.1	+	6	659	c.649G>A	c.(649-651)Gag>Aag	p.E217K	FCN2_uc004cfh.1_Missense_Mutation_p.E179K	NM_004108	NP_004099	Q15485	FCN2_HUMAN	Homo sapiens ficolin (collagen/fibrinogen domain containing lectin) 2 (hucolin) (FCN2), transcript variant SV0, mRNA.	217	Fibrinogen C-terminal.				complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		CGACGAGGCGGAGAAGTACAA	0.572000														13			39		0	0	0.00111076	0	0
TIMM9	26520	broad.mit.edu	37	14	58877641	58877642	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr14:58877641_58877642CC>AA	uc010aph.3	-	2	269_270	c.54_55GG>TT	c.(52-57)ctgggg>ctTTgg	p.G19W	TIMM9_uc001xds.3_Missense_Mutation_p.G19W|TIMM9_uc010api.3_Missense_Mutation_p.G19W	NM_012460	NP_036592	Q9Y5J7	TIM9_HUMAN	Homo sapiens translocase of inner mitochondrial membrane 9 homolog (yeast) (TIMM9), nuclear gene encoding mitochondrial protein, mRNA.	19					protein import into mitochondrial inner membrane|sensory perception of sound|transmembrane transport	mitochondrial inner membrane presequence translocase complex|mitochondrial intermembrane space protein transporter complex	zinc ion binding	p.G19W(2)		kidney(2)|skin(1)	3						TTGTAGGTCCCCAGAAATTCCT	0.317000														191			7		0	0	6.4e-05	0	0
RANBP6	26953	broad.mit.edu	37	9	6013286	6013286	+	Silent	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr9:6013286G>A	uc003zjr.3	-	0	2355	c.2322C>T	c.(2320-2322)ctC>ctT	p.L774L	RANBP6_uc011lmf.2_Silent_p.L422L|RANBP6_uc003zjs.3_3'UTR	NM_012416	NP_036548	O60518	RNBP6_HUMAN	Homo sapiens RAN binding protein 6 (RANBP6), transcript variant 1, mRNA.	774					protein transport	cytoplasm|nucleus	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		TTATTTCTGAGAGCACATCTG	0.413000														65			16		0	0	0.000566183	0	0
SDK1	221935	broad.mit.edu	37	7	3990576	3990576	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr7:3990576C>T	uc003smx.3	+	5	1008	c.869C>T	c.(868-870)aCc>aTc	p.T290I		NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	290					cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		ACACCTGAAACCATGGCCCCA	0.552000														35			13		0	0	0.000422831	0	0
CCDC74A	90557	broad.mit.edu	37	2	132290454	132290454	+	Silent	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr2:132290454C>T	uc002tta.3	+	5	946	c.894C>T	c.(892-894)tcC>tcT	p.S298S	CCDC74A_uc002ttb.3_Silent_p.S232S|CCDC74A_uc021vpq.1_Missense_Mutation_p.P234L|CCDC74A_uc021vpr.1_Silent_p.S295S	NM_138770	NP_620125	Q96AQ1	CC74A_HUMAN	Homo sapiens coiled-coil domain containing 74A (CCDC74A), mRNA.	298										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						ACCTCAAGTCCCTCCTGGAAG	0.701000														16			17		0	0	0.000295444	0	0
RCL1	10171	broad.mit.edu	37	9	4826983	4826983	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr9:4826983C>T	uc003zis.2	+	2	592	c.334C>T	c.(334-336)Ccg>Tcg	p.P112S		NM_005772	NP_005763	Q9Y2P8	RCL1_HUMAN	Homo sapiens RNA terminal phosphate cyclase-like 1 (RCL1), mRNA.	112					RNA processing|ribosome biogenesis	nucleolus	RNA-3'-phosphate cyclase activity	p.P112Q(2)		breast(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0206)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0244)		TATGAAGCACCCGTTAAAAAT	0.453000														42			41		0	0	0.000228196	0	0
BAI3	577	broad.mit.edu	37	6	70065728	70065728	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr6:70065728G>A	uc010kak.3	+	26	3847	c.3571G>A	c.(3571-3573)Gat>Aat	p.D1191N	BAI3_uc003pev.4_Missense_Mutation_p.D1191N|BAI3_uc011dxx.2_Missense_Mutation_p.D397N	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	1191					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CTTTGAAAAGGATGTAGACAT	0.284000														47			48		0	0	0.000781405	0	0
OR5B3	441608	broad.mit.edu	37	11	58170611	58170611	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr11:58170611G>A	uc010rkf.2	-	0	272	c.272C>T	c.(271-273)tCt>tTt	p.S91F		NM_001005469	NP_001005469	Q8NH48	OR5B3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 3 (OR5B3), mRNA.	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S91C(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TGCATTGTAAGAGATGACCTT	0.433000														41			20		0	0	0.000295444	0	0
TMC5	79838	broad.mit.edu	37	16	19455460	19455460	+	Silent	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr16:19455460C>T	uc002dgc.4	+	3	1595	c.846C>T	c.(844-846)ccC>ccT	p.P282P	TMC5_uc010vaq.2_Silent_p.P282P|TMC5_uc002dgb.4_Silent_p.P282P|TMC5_uc010var.2_Silent_p.P282P	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	282						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GTGATGACCCCGTGGGCAGTC	0.488000														45			43		0	0	0.000589545	0	0
FAIM3	9214	broad.mit.edu	37	1	207087397	207087397	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr1:207087397C>T	uc001hey.3	-	1	259	c.80G>A	c.(79-81)gGg>gAg	p.G27E	FAIM3_uc010prz.2_Intron|FAIM3_uc021pif.1_Missense_Mutation_p.G27E|FAIM3_uc010psa.2_5'UTR	NM_005449	NP_005440	O60667	FAIM3_HUMAN	Homo sapiens Fas apoptotic inhibitory molecule 3 (FAIM3), transcript variant 1, mRNA.	27					anti-apoptosis|cellular defense response	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(84;0.201)					GCCCAGCTCCCCCTCTACCTT	0.547000														26			51		0	0	0.000781405	0	0
AHRR	57491	broad.mit.edu	37	5	434652	434652	+	Silent	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr5:434652G>A	uc003jav.3	+	11	1906	c.1863G>A	c.(1861-1863)agG>agA	p.R621R	AHRR_uc003jaw.3_Silent_p.R603R|AHRR_uc010isy.3_Silent_p.R449R|AHRR_uc010isz.3_Silent_p.R599R|AHRR_uc003jax.3_Silent_p.R362R|AHRR_uc003jay.3_Silent_p.R459R|AHRR_uc003jaz.3_Silent_p.R220R	NM_020731	NP_065782	A9YTQ3	AHRR_HUMAN	Homo sapiens aryl-hydrocarbon receptor repressor (AHRR), transcript variant 1, mRNA.	603	Needed for transcriptional repression (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			CCCATGGGAGGGCCACTGCTG	0.672000														11			4		0	0	0.00024832	0	0
EYA2	2139	broad.mit.edu	37	20	45812033	45812033	+	Silent	SNP	G	A	A			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr20:45812033G>A	uc002xsm.3	+	14	1904	c.1530G>A	c.(1528-1530)gcG>gcA	p.A510A	EYA2_uc010ghp.3_Silent_p.A431A|EYA2_uc002xsq.3_Silent_p.A480A	NM_005244	NP_005235	O00167	EYA2_HUMAN	Homo sapiens eyes absent homolog 2 (Drosophila) (EYA2), transcript variant 1, mRNA.	510					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				agcaaggagcgaaaaaggtac	0.537000														39			57		0	0	0.000781405	0	0
CDR1	1038	broad.mit.edu	37	X	139866304	139866304	+	Silent	SNP	C	T	T			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chrX:139866304C>T	uc004fbg.1	-	0	420	c.228G>A	c.(226-228)agG>agA	p.R76R	AK054921_uc004fbf.1_Non-coding_Transcript	NM_004065	NP_004056	P51861	CDR1_HUMAN	Homo sapiens cerebellar degeneration-related protein 1, 34kDa (CDR1), mRNA.	76	23 X 6 AA approximate repeats.									breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				CCTTGTCTTCCCTCAAATCCA	0.463000														6			19		0	0	0.000132079	0	0
GLT8D1	55830	broad.mit.edu	37	3	52731861	52731877	+	Frame_Shift_Del	DEL	CCACAGGAATCTCCTCT	-	-			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr3:52731861_52731877delCCACAGGAATCTCCTCT	uc003dfi.4	-	3	420_436	c.189_205delAGAGGAGATTCCTGTGG	c.(187-207)caagaggagattcctgtggtcfs	p.Q63fs	GLT8D1_uc003dfk.3_Frame_Shift_Del_p.Q63fs|GLT8D1_uc003dfl.3_Frame_Shift_Del_p.Q63fs|GLT8D1_uc003dfm.3_Frame_Shift_Del_p.Q63fs|GLT8D1_uc003dfn.3_Frame_Shift_Del_p.Q63fs	NM_152932	NP_690909	Q68CQ7	GL8D1_HUMAN	Homo sapiens glycosyltransferase 8 domain containing 1 (GLT8D1), transcript variant 1, mRNA.	63						integral to membrane|mitochondrion	transferase activity, transferring glycosyl groups			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)	8				BRCA - Breast invasive adenocarcinoma(193;6.78e-05)|Kidney(197;0.000618)|KIRC - Kidney renal clear cell carcinoma(197;0.000779)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GCAGCGATGACCACAGGAATCTCCTCTTGTCTCCCAT	0.470													---	62	---	---	14	---					
C6orf223	221416	broad.mit.edu	37	6	43970504	43970509	+	In_Frame_Del	DEL	GCGGCG	-	-	rs72369323		TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr6:43970504_43970509delGCGGCG	uc003own.3	+	3	390_395	c.370_375delGCGGCG	c.(370-375)gcggcgdel	p.AA130del	AK024736_uc003owm.1_Intron|C6orf223_uc003owo.3_3'UTR	NM_153246	NP_694978	Q8N319	CF223_HUMAN	Homo sapiens chromosome 6 open reading frame 223 (C6orf223), transcript variant 1, mRNA.	130	Ala-rich.									central_nervous_system(1)|lung(2)|pancreas(1)|prostate(1)|urinary_tract(1)	6	all_cancers(18;2.28e-07)|all_epithelial(2;1.62e-08)|Lung NSC(15;0.000172)|all_lung(25;0.000533)|Hepatocellular(11;0.00309)|Ovarian(13;0.0437)		all cancers(41;0.00141)|Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.217)			GGTAGAGCGCgcggcggcggcggcgg	0.772													---	11	---	---	5	---					
NFIB	4781	broad.mit.edu	37	9	14146714	14146714	+	Frame_Shift_Del	DEL	C	-	-	rs144909299		TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr9:14146714delC	uc022bdo.1	-	5	1434	c.899delG	c.(898-900)agtfs	p.S300fs	NFIB_uc003zld.3_Frame_Shift_Del_p.S48fs|NFIB_uc003zlf.3_Frame_Shift_Del_p.S300fs|NFIB_uc003zle.3_Frame_Shift_Del_p.S300fs|NFIB_uc022bdp.1_Frame_Shift_Del_p.S326fs|NFIB_uc011lmo.2_Frame_Shift_Del_p.S300fs	NM_001190737	NP_001177666	O00712	NFIB_HUMAN	Homo sapiens nuclear factor I/B (NFIB), transcript variant 1, mRNA.	300					Clara cell differentiation|DNA replication|Type I pneumocyte differentiation|Type II pneumocyte differentiation|anterior commissure morphogenesis|chondrocyte differentiation|commissural neuron axon guidance|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		CCATGTTCGACTTCCAGCAGC	0.413			T	"""MYB, HGMA2"""	"""adenoid cystic carcinoma, lipoma"""								---	32	---	---	18	---					
TRPM6	140803	broad.mit.edu	37	9	77455061	77455062	+	Frame_Shift_Del	DEL	TG	-	-	rs121912625		TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr9:77455061_77455062delTG	uc004ajl.1	-	4	660_661	c.422_423delCA	c.(421-423)tcafs	p.S141fs	TRPM6_uc004ajk.1_Frame_Shift_Del_p.S136fs|TRPM6_uc022bib.1_Frame_Shift_Del_p.S136fs|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Frame_Shift_Del_p.S141fs|TRPM6_uc010mpd.1_Frame_Shift_Del_p.S141fs|TRPM6_uc010mpe.1_Frame_Shift_Del_p.S141fs|TRPM6_uc004ajn.1_Frame_Shift_Del_p.S141fs	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	141			S -> L (in HOMG1; impairs heterodimer formation resulting in intracellular retention).		response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CCCCATGGACTGAGATCACAAG	0.391													---	22	---	---	11	---					
PRPF40B	25766	broad.mit.edu	37	12	50025257	50025258	+	Frame_Shift_Ins	INS	-	C	C			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr12:50025257_50025258insC	uc001rur.1	+	1	155_156	c.92_93insC	c.(91-93)atcfs	p.I31fs	PRPF40B_uc001rup.1_Frame_Shift_Ins_p.I53fs|PRPF40B_uc001ruq.1_Frame_Shift_Ins_p.I25fs|PRPF40B_uc001rus.1_5'Flank	NM_001031698	NP_001026868	Q6NWY9	PR40B_HUMAN	Homo sapiens PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) (PRPF40B), transcript variant 1, mRNA.	31	Pro-rich.				RNA splicing|mRNA processing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						CCACCAGCTATCCCCCCCATGC	0.604													---	72	---	---	18	---					
BLM	641	broad.mit.edu	37	15	91304286	91304288	+	In_Frame_Del	DEL	TGA	-	-			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr15:91304286_91304288delTGA	uc002bpr.3	+	6	1780_1782	c.1683_1685delTGA	c.(1681-1686)tttgat>ttt	p.D566del	BLM_uc010uqh.2_In_Frame_Del_p.D566del|BLM_uc010uqi.2_In_Frame_Del_p.D191del|BLM_uc010bnx.3_In_Frame_Del_p.D566del	NM_000057	NP_000048	P54132	BLM_HUMAN	Homo sapiens Bloom syndrome, RecQ helicase-like (BLM), mRNA.	566	Poly-Asp.				G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|double-strand break repair via homologous recombination|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	PML body|cytoplasm|lateral element|nuclear matrix|nucleolus	ATP binding|DNA strand annealing activity|G-quadruplex DNA binding|bubble DNA binding|four-way junction helicase activity|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				---	968	---	---	7	---					
LRRK1	79705	broad.mit.edu	37	15	101562697	101562697	+	Frame_Shift_Del	DEL	C	-	-			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr15:101562697delC	uc002bwr.3	+	14	2281	c.1962delC	c.(1960-1962)ctcfs	p.L654fs	LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Intron	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA.	654	Roc.				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AGTCCACCCTCCTGGAGATCT	0.622													---	91	---	---	15	---					
HIPK4	147746	broad.mit.edu	37	19	40886647	40886649	+	In_Frame_Del	DEL	CTC	-	-			TCGA-D9-A148-06A-11D-A19A-08	TCGA-D9-A148-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e884b1-ab8a-4225-9fc9-a2a6fd8f4660	b036b9bb-f047-427a-bd1f-7bdec7c15002	g.chr19:40886647_40886649delCTC	uc002onp.3	-	2	1534_1536	c.1249_1251delGAG	c.(1249-1251)gagdel	p.E417del		NM_144685	NP_653286	Q8NE63	HIPK4_HUMAN	Homo sapiens homeodomain interacting protein kinase 4 (HIPK4), mRNA.	417						cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			CTGGTGCCTTCTCCTCTCGGAAG	0.626													---	57	---	---	17	---					
