Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
CATSPER4	378807	broad.mit.edu	37	1	26517165	26517165	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr1:26517165C>T	ENST00000456354.2	+	1	114	c.47C>T	c.(46-48)aCa>aTa	p.T16I		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	16					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		ACCTCCCATACAGGCCTCGAG	0.577000													7	11					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62297677	62297677	+	Silent	SNP	C	C	G			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr11:62297677C>G	ENST00000378024.4	-	5	4486	c.4212G>C	c.(4210-4212)gtG>gtC	p.V1404V	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1404					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TGGGCAGCTTCACATCCACTT	0.502000													50	175					0	0	1	0	0
PCDHA3	56145	broad.mit.edu	37	5	140182066	140182066	+	Silent	SNP	G	G	A			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr5:140182066G>A	ENST00000522353.2	+	1	1284	c.1284G>A	c.(1282-1284)cgG>cgA	p.R428R	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Silent_p.R428R|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACTGCTCGGGACGGGGGCT	0.627000													33	120					0	0	1	0	0
LILRA1	11024	broad.mit.edu	37	19	55106589	55106589	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr19:55106589C>T	ENST00000453777.1	+	5	553	c.383C>T	c.(382-384)tCa>tTa	p.S128L	LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRA1_ENST00000251372.3_Missense_Mutation_p.S128L|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	128	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CCCACCCTCTCAGCTCTACCC	0.562000													16	71					0	0	1	0	0
TOMM40L	84134	broad.mit.edu	37	1	161197761	161197761	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr1:161197761G>A	ENST00000367988.3	+	6	735	c.466G>A	c.(466-468)Gac>Aac	p.D156N	TOMM40L_ENST00000474486.1_3'UTR|TOMM40L_ENST00000367987.1_Missense_Mutation_p.D156N|TOMM40L_ENST00000545897.1_Missense_Mutation_p.D122N	NM_032174.4	NP_115550.2	Q969M1	TM40L_HUMAN	translocase of outer mitochondrial membrane 40 homolog (yeast)-like	156					protein transport	mitochondrial outer membrane|pore complex	porin activity|voltage-gated anion channel activity	p.L157fs*69(2)		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)			AGGAAATCCTGACCTGATTGG	0.512000											OREG0013943	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	72					0	0	1	0	0
PIGO	84720	broad.mit.edu	37	9	35092000	35092000	+	Silent	SNP	C	C	T			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr9:35092000C>T	ENST00000378617.3	-	7	2278	c.1884G>A	c.(1882-1884)ttG>ttA	p.L628L	PIGO_ENST00000341666.3_Silent_p.L628L|PIGO_ENST00000361778.2_Intron|PIGO_ENST00000298004.5_Intron	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	628					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TACATAAAAGCAACCCAATTC	0.542000													13	25					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124196175	124196175	+	Silent	SNP	C	C	T			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr3:124196175C>T	ENST00000360013.3	+	27	4306	c.4179C>T	c.(4177-4179)ttC>ttT	p.F1393F	KALRN_ENST00000240874.3_Silent_p.F1393F|KALRN_ENST00000460856.1_Silent_p.F1384F	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1393	DH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CGGGCACCTTCTTTGATGTAA	0.408000													9	33					0	0	1	0	0
DCAF8L2	347442	broad.mit.edu	37	X	27766599	27766599	+	Silent	SNP	G	G	A			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chrX:27766599G>A	ENST00000451261.2	+	5	1986	c.1587G>A	c.(1585-1587)gcG>gcA	p.A529A		NM_001136533.1	NP_001130005.1			DDB1 and CUL4 associated factor 8-like 2											central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						CTGTGTTGGCGTGCAGTGGCC	0.478000													3	7					0	0	1	0	0
HTR4	3360	broad.mit.edu	37	5	147928314	147928314	+	Silent	SNP	C	C	T			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr5:147928314C>T	ENST00000360693.3	-	4	408	c.270G>A	c.(268-270)gaG>gaA	p.E90E	HTR4_ENST00000362016.2_Silent_p.E90E|HTR4_ENST00000354217.2_Silent_p.E90E|HTR4_ENST00000314512.6_Silent_p.E90E|HTR4_ENST00000521735.1_Silent_p.E90E|HTR4_ENST00000520514.1_Silent_p.E90E|HTR4_ENST00000377888.3_Silent_p.E90E|HTR4_ENST00000521530.1_Silent_p.E90E|HTR4_ENST00000517929.1_Silent_p.E90E	NM_001040173.2	NP_001035263.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	90					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	GACAAAACACCTCCCCATAAA	0.473000													5	10					0	0	1	0	0
CYP4A22	284541	broad.mit.edu	37	1	47603337	47603337	+	Silent	SNP	C	C	T			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr1:47603337C>T	ENST00000371891.3	+	1	211	c.180C>T	c.(178-180)ttC>ttT	p.F60F	CYP4A22_ENST00000294337.3_Silent_p.F60F|CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000371890.3_Silent_p.F60F|CYP4A22_ENST00000485117.1_3'UTR	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	60						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ACTGGCTCTTCGGGCACATCC	0.602000													18	22					0	0	1	0	0
SERPINB13	5275	broad.mit.edu	37	18	61264523	61264523	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr18:61264523C>T	ENST00000344731.5	+	8	1204	c.1102C>T	c.(1102-1104)Cat>Tat	p.H368Y	SERPINB13_ENST00000269489.5_Missense_Mutation_p.H316Y	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	368					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						TCACTGCAATCATCCCTTCCT	0.502000													5	43					0	0	1	0	0
ITGAL	3683	broad.mit.edu	37	16	30490651	30490651	+	Splice_Site	SNP	G	G	A			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr16:30490651G>A	ENST00000356798.6	+	6	625		c.e6-1		RP11-297C4.2_ENST00000569459.1_RNA|ITGAL_ENST00000358164.5_Intron|ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000454514.2_Intron	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)						blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	GGCTTCTGCAGAATGTATCAA	0.473000													5	31					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100493888	100493888	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr8:100493888G>A	ENST00000395996.1	+	25	3839	c.3728G>A	c.(3727-3729)aGa>aAa	p.R1243K	VPS13B_ENST00000358544.2_Missense_Mutation_p.R1243K|VPS13B_ENST00000357162.2_Missense_Mutation_p.R1243K			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1243					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			ATTCAGAAGAGAGGCAATCTC	0.438000													230	74					0	0	1	0	0
SH2B1	25970	broad.mit.edu	37	16	28878700	28878700	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr16:28878700C>G	ENST00000337120.5	+	2	4279	c.988C>G	c.(988-990)Cgg>Ggg	p.R330G	SH2B1_ENST00000395532.4_Missense_Mutation_p.R330G|SH2B1_ENST00000538342.1_5'UTR|SH2B1_ENST00000545570.1_Missense_Mutation_p.R20G|SH2B1_ENST00000359285.5_Missense_Mutation_p.R330G|SH2B1_ENST00000322610.8_Missense_Mutation_p.R330G|SH2B1_ENST00000563674.1_Intron	NM_001145812.1|NM_015503.2	NP_001139284.1|NP_056318.2	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	330	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|PH.				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						CACAGACGTCCGGACAACCAC	0.542000													34	172					0	0	1	0	0
ZC3H7B	23264	broad.mit.edu	37	22	41735862	41735862	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr22:41735862G>A	ENST00000352645.4	+	10	1116	c.859G>A	c.(859-861)Gag>Aag	p.E287K	ZC3H7B_ENST00000351589.4_Missense_Mutation_p.E287K	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	303					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CGTGCCTAGTGAGTTGCCCCA	0.672000													29	86					0	0	1	0	0
GLIPR1L2	144321	broad.mit.edu	37	12	75804223	75804223	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr12:75804223G>A	ENST00000550916.1	+	2	291	c.244G>A	c.(244-246)Gta>Ata	p.V82I	GLIPR1L2_ENST00000378692.3_5'UTR|GLIPR1L2_ENST00000320460.4_Missense_Mutation_p.V82I|GLIPR1L2_ENST00000435775.1_Missense_Mutation_p.V82I|GLIPR1L2_ENST00000441218.1_Missense_Mutation_p.V17I|GLIPR1L2_ENST00000547164.1_Missense_Mutation_p.V82I	NM_001270396.1	NP_001257325.1	Q4G1C9	GRPL2_HUMAN	GLI pathogenesis-related 1 like 2	82						integral to membrane				kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16						GACTTGGGATGTAGCTTTATC	0.284000													3	14					0	0	1	0	0
FAM117B	150864	broad.mit.edu	37	2	203630478	203630478	+	Silent	SNP	T	T	C			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr2:203630478T>C	ENST00000303116.6	+	8	1771	c.1029T>C	c.(1027-1029)gcT>gcC	p.A343A	FAM117B_ENST00000392238.2_Silent_p.A587A	NM_173511.3	NP_775782.2	Q6P1L5	F117B_HUMAN	family with sequence similarity 117, member B	587										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						TTGAGGAAGCTGAAGGATAGG	0.517000													5	23					0	0	1	0	0
ARHGEF10	9639	broad.mit.edu	37	8	1876682	1876682	+	Silent	SNP	A	A	G			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr8:1876682A>G	ENST00000518288.1	+	25	3022	c.2859A>G	c.(2857-2859)gaA>gaG	p.E953E	ARHGEF10_ENST00000520359.1_Silent_p.E891E|ARHGEF10_ENST00000398564.1_Silent_p.E954E|ARHGEF10_ENST00000262112.6_Silent_p.E925E|ARHGEF10_ENST00000349830.3_Silent_p.E929E			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	954					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		TCAACGTGGAATCTCGCATCC	0.557000													18	53					0	0	1	0	0
FAS	355	broad.mit.edu	37	10	90770539	90770539	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr10:90770539C>G	ENST00000355740.2	+	6	755	c.535C>G	c.(535-537)Ctt>Gtt	p.L179V	FAS_ENST00000355279.2_Missense_Mutation_p.L179V|FAS_ENST00000357339.2_Intron|FAS_ENST00000352159.4_Missense_Mutation_p.L179V|FAS_ENST00000313771.5_3'UTR	NM_000043.4|NM_152871.2|NM_152872.2	NP_000034.1|NP_690610.1|NP_690611.1	P25445	TNR6_HUMAN	Fas cell surface death receptor	179					activation of caspase activity|activation of pro-apoptotic gene products|anti-apoptosis|cellular response to mechanical stimulus|positive regulation of necrotic cell death	cytosol|extracellular region|integral to membrane|soluble fraction	identical protein binding|kinase binding			breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0161)		Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193)		GTGGCTTTGTCTTCTTCTTTT	0.353000													24	79					0	0	1	0	0
ATF4	468	broad.mit.edu	37	22	39917511	39917511	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr22:39917511G>C	ENST00000337304.2	+	1	943	c.61G>C	c.(61-63)Gac>Cac	p.D21H	ATF4_ENST00000404241.2_Missense_Mutation_p.D21H|ATF4_ENST00000396680.1_Missense_Mutation_p.D21H	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN	activating transcription factor 4	21					cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter	cytoplasm|plasma membrane	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)					GTCCCCCTTCGACCAGTCGGG	0.537000													8	45					0	0	1	0	0
ZNF567	163081	broad.mit.edu	37	19	37210333	37210333	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr19:37210333A>G	ENST00000585696.1	+	3	1844	c.614A>G	c.(613-615)aAc>aGc	p.N205S	ZNF567_ENST00000392163.2_Missense_Mutation_p.N205S|ZNF567_ENST00000360729.4_Missense_Mutation_p.N205S|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000588311.1_Missense_Mutation_p.N205S|ZNF567_ENST00000536254.2_Missense_Mutation_p.N236S			Q8N184	ZN567_HUMAN	zinc finger protein 567	236					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AAAGGAGAAAACCCATCTGTA	0.353000													4	13					0	0	1	0	0
ATP10D	57205	broad.mit.edu	37	4	47517632	47517632	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr4:47517632C>T	ENST00000273859.3	+	3	699	c.430C>T	c.(430-432)Cgg>Tgg	p.R144W	ATP10D_ENST00000504445.1_Missense_Mutation_p.R144W	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	144					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						GGAAGATTATCGGAAATACAA	0.368000													4	31					0	0	1	0	0
RECQL5	9400	broad.mit.edu	37	17	73625916	73625916	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr17:73625916C>T	ENST00000317905.5	-	15	1978	c.1819G>A	c.(1819-1821)Gat>Aat	p.D607N	RECQL5_ENST00000423245.2_Missense_Mutation_p.D580N|RECQL5_ENST00000443199.2_5'UTR	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	607					DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			CTGTGGATATCGGCCACCTGG	0.617000								Other identified genes with known or suspected DNA repair function					6	44					0	0	1	0	0
IPO9	55705	broad.mit.edu	37	1	201816464	201816464	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr1:201816464G>A	ENST00000361565.4	+	2	290	c.221G>A	c.(220-222)cGt>cAt	p.R74H	IPO9_ENST00000464348.1_3'UTR	NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	74	Importin N-terminal.				protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						CTGGCAATCCGTCAGGTAAGT	0.393000													7	25					0	0	1	0	0
TUBGCP4	27229	broad.mit.edu	37	15	43677998	43677998	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr15:43677998G>C	ENST00000564079.1	+	8	973	c.733G>C	c.(733-735)Gag>Cag	p.E245Q	TUBGCP4_ENST00000399460.3_Missense_Mutation_p.E109Q|TUBGCP4_ENST00000260383.7_Missense_Mutation_p.E245Q	NM_014444.2	NP_055259.2	Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	245					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	structural constituent of cytoskeleton			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		GCGCCTGATTGAGGAAGAGAA	0.433000													4	20					0	0	1	0	0
TRMT11	60487	broad.mit.edu	37	6	126320607	126320607	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr6:126320607C>T	ENST00000334379.5	+	7	648	c.527C>T	c.(526-528)gCa>gTa	p.A176V	TRMT11_ENST00000368332.3_Missense_Mutation_p.A176V|TRMT11_ENST00000450358.1_Missense_Mutation_p.A176V	NM_001031712.2	NP_001026882.2	Q7Z4G4	TRM11_HUMAN	tRNA methyltransferase 11 homolog (S. cerevisiae)	176					tRNA processing		methyltransferase activity|nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(226;0.0356)		ATTTAGATTGCAGATGGACAG	0.333000													8	19					0	0	1	0	0
MKL2	57496	broad.mit.edu	37	16	14334492	14334492	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr16:14334492A>T	ENST00000573051.1	+	9	1105	c.947A>T	c.(946-948)gAa>gTa	p.E316V	MKL2_ENST00000341243.5_Intron|MKL2_ENST00000572567.1_3'UTR|MKL2_ENST00000318282.5_Intron|MKL2_ENST00000574045.1_Intron|MKL2_ENST00000571589.1_Intron			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	0					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ACAGTGTCTGAAGTCCACATG	0.353000													9	34					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179485343	179485343	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr2:179485343A>T	ENST00000589042.1	-	248	46129	c.45905T>A	c.(45904-45906)cTt>cAt	p.L15302H	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L6362H|TTN_ENST00000460472.2_Missense_Mutation_p.L6237H|TTN_ENST00000342992.6_Missense_Mutation_p.L12734H|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L6429H|TTN_ENST00000591111.1_Missense_Mutation_p.L13661H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13661	Fibronectin type-III 11.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACAATCCTAAGGTCTTCCTC	0.328000													5	16					0	0	1	0	0
FKBP4	2288	broad.mit.edu	37	12	2907923	2907923	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr12:2907923G>A	ENST00000001008.4	+	4	632	c.445G>A	c.(445-447)Gga>Aga	p.G149R	RP4-816N1.7_ENST00000547042.1_RNA|RP4-816N1.6_ENST00000547834.1_RNA	NM_002014.3	NP_002005.1	Q02790	FKBP4_HUMAN	FK506 binding protein 4, 59kDa	149					negative regulation of microtubule polymerization or depolymerization|negative regulation of neuron projection development|protein folding	axonal growth cone|cytosol|membrane|microtubule|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity|protein binding, bridging			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14			OV - Ovarian serous cystadenocarcinoma(31;0.00105)		Dimethyl sulfoxide(DB01093)	GGAAGATGGCGGAATCATTCG	0.493000													15	72					0	0	1	0	0
CES4A	283848	broad.mit.edu	37	16	67029590	67029590	+	Nonsense_Mutation	SNP	C	C	T			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr16:67029590C>T	ENST00000540947.2	+	2	302	c.118C>T	c.(118-120)Cag>Tag	p.Q40*	CES4A_ENST00000338718.4_Nonsense_Mutation_p.Q63*|CES4A_ENST00000398354.1_Nonsense_Mutation_p.Q40*|CES4A_ENST00000326686.5_Nonsense_Mutation_p.Q40*|CES4A_ENST00000541479.1_Nonsense_Mutation_p.Q63*	NM_173815.6	NP_776176.5	Q5XG92	EST4A_HUMAN	carboxylesterase 4A	40						extracellular region	carboxylesterase activity			large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						GCAAGGAAAACAGATGCATGT	0.537000													25	53					0	0	1	0	0
PARP14	54625	broad.mit.edu	37	3	122418709	122418709	+	Silent	SNP	A	A	T			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr3:122418709A>T	ENST00000474629.2	+	6	1574	c.1308A>T	c.(1306-1308)gcA>gcT	p.A436A		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	436					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		TAATCTTAGCAGGGAAATCAG	0.363000													5	31					0	0	1	0	0
RBM26	64062	broad.mit.edu	37	13	79940846	79940846	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr13:79940846G>A	ENST00000438737.2	-	7	1497	c.1057C>T	c.(1057-1059)Ctt>Ttt	p.L353F	RBM26_ENST00000267229.7_Missense_Mutation_p.L353F|RBM26_ENST00000438724.1_Missense_Mutation_p.L353F			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	353	Pro-rich.				mRNA processing		nucleotide binding|protein binding|RNA 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)		GGGGGTGTAAGAATTGGTGGA	0.542000													16	31					0	0	1	0	0
CATSPER1	117144	broad.mit.edu	37	11	65793340	65793340	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr11:65793340C>T	ENST00000312106.5	-	1	648	c.511G>A	c.(511-513)Gag>Aag	p.E171K		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	171	His-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						TGGGAAGCCTCACCGTGGTGG	0.582000													27	62					0	0	1	0	0
COPS5	10987	broad.mit.edu	37	8	67974120	67974120	+	Nonsense_Mutation	SNP	C	C	A			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr8:67974120C>A	ENST00000357849.4	-	1	432	c.112G>T	c.(112-114)Gaa>Taa	p.E38*	COPS5_ENST00000517736.1_Intron|COPS5_ENST00000519963.1_5'UTR	NM_006837.2	NP_006828.2	Q92905	CSN5_HUMAN	COP9 signalosome subunit 5	38					cullin deneddylation|transcription from RNA polymerase II promoter	eukaryotic translation initiation factor 3 complex|signalosome	metal ion binding|metallopeptidase activity|protein binding|transcription coactivator activity|translation initiation factor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(3)	14	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00389)|OV - Ovarian serous cystadenocarcinoma(28;0.00691)|all cancers(69;0.0205)|BRCA - Breast invasive adenocarcinoma(89;0.153)			GCCAGGATTTCTTGCTGCTGT	0.557000													7	79					5.18039e-06	5.64087e-06	1	1	0
ATP1A3	478	broad.mit.edu	37	19	42471441	42471441	+	Silent	SNP	G	G	A			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr19:42471441G>A	ENST00000545399.1	-	22	3165	c.3012C>T	c.(3010-3012)taC>taT	p.Y1004Y	ATP1A3_ENST00000302102.5_Silent_p.Y991Y|ATP1A3_ENST00000602133.1_Silent_p.Y961Y|ATP1A3_ENST00000543770.1_Silent_p.Y1002Y	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	991					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						GGATTTCGTCGTAGACGAAGA	0.652000													9	29					0	0	1	0	0
GPS1	2873	broad.mit.edu	37	17	80011196	80011196	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr17:80011196C>T	ENST00000392358.2	+	2	549	c.200C>T	c.(199-201)cCg>cTg	p.P67L	GPS1_ENST00000578552.1_Missense_Mutation_p.P27L|GPS1_ENST00000306823.6_Missense_Mutation_p.P27L|GPS1_ENST00000355130.2_Missense_Mutation_p.P67L|GPS1_ENST00000320548.4_Missense_Mutation_p.P11L	NM_212492.1	NP_997657.1	Q13098	CSN1_HUMAN	G protein pathway suppressor 1	27					cell cycle|cullin deneddylation|inactivation of MAPK activity|JNK cascade	cytoplasm|signalosome	GTPase inhibitor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|skin(2)	13	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			CAGGAAGACCCGCAGAATGCA	0.667000													3	22					0	0	1	0	0
LCN9	392399	broad.mit.edu	37	9	138556057	138556057	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr9:138556057G>A	ENST00000277526.3	+	2	146	c.146G>A	c.(145-147)cGg>cAg	p.R49Q	LCN9_ENST00000430290.2_3'UTR	NM_001001676.1	NP_001001676.1	Q8WX39	LCN9_HUMAN	lipocalin 9	49						extracellular region	pheromone binding|transporter activity			kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	6		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;3.43e-07)|Epithelial(140;1.97e-06)|all cancers(34;6.1e-05)		GACCTGAATCGGATTAAAGAA	0.502000													21	24					0	0	1	0	0
HTR4	3360	broad.mit.edu	37	5	147928327	147928327	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr5:147928327C>A	ENST00000360693.3	-	4	395	c.257G>T	c.(256-258)tGg>tTg	p.W86L	HTR4_ENST00000362016.2_Missense_Mutation_p.W86L|HTR4_ENST00000354217.2_Missense_Mutation_p.W86L|HTR4_ENST00000314512.6_Missense_Mutation_p.W86L|HTR4_ENST00000521735.1_Missense_Mutation_p.W86L|HTR4_ENST00000520514.1_Missense_Mutation_p.W86L|HTR4_ENST00000377888.3_Missense_Mutation_p.W86L|HTR4_ENST00000521530.1_Missense_Mutation_p.W86L|HTR4_ENST00000517929.1_Missense_Mutation_p.W86L	NM_001040173.2	NP_001035263.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	86					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	CCCATAAATCCAGATGTCTTG	0.448000													4	14					0.014758	0.0150654	1	1	0
SRCAP	10847	broad.mit.edu	37	16	30750483	30750483	+	Missense_Mutation	SNP	G	G	T	rs139814474	byFrequency	TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr16:30750483G>T	ENST00000262518.4	+	34	9507	c.9122G>T	c.(9121-9123)cGa>cTa	p.R3041L	SRCAP_ENST00000344771.4_Missense_Mutation_p.R2883L|SRCAP_ENST00000395059.2_Missense_Mutation_p.R2979L	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	3041					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TTGGGGAGGCGACGGCAACCC	0.642000													6	25					0.0293803	0.029837	1	1	0
EXOSC10	5394	broad.mit.edu	37	1	11137483	11137483	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr1:11137483G>A	ENST00000544779.1	-	15	1980	c.1975C>T	c.(1975-1977)Ctt>Ttt	p.L659F	EXOSC10_ENST00000376936.4_Silent_p.L606L|EXOSC10_ENST00000304457.7_Silent_p.L606L			Q01780	EXOSX_HUMAN	exosome component 10	75					CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		GAGGTCCAAAGAGAACATTCT	0.542000													14	60					0	0	1	0	0
MALAT1	378938	broad.mit.edu	37	11	65267685	65267685	+	RNA	SNP	G	G	T			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr11:65267685G>T	ENST00000534336.1	+	0	2453					NR_002819.2																						GAAGGCTTTTGGAAGAGTTAG	0.328000													5	11					0.014758	0.0150654	1	1	0
SOX8	30812	broad.mit.edu	37	16	1034726	1034726	+	Silent	SNP	G	G	A			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr16:1034726G>A	ENST00000293894.3	+	3	796	c.681G>A	c.(679-681)ccG>ccA	p.P227P		NM_014587.3	NP_055402.2	P57073	SOX8_HUMAN	SRY (sex determining region Y)-box 8	227					adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|Sertoli cell development|signal transduction|spermatogenesis|ureter morphogenesis	cytoplasm|nucleus				central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1)	10		Hepatocellular(780;0.00308)				CGCCCACCCCGCCCACCACCC	0.726000													3	3					0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46125020	46125020	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr12:46125020G>T	ENST00000334344.6	+	3	379	c.207G>T	c.(205-207)tgG>tgT	p.W69C	ARID2_ENST00000422737.1_5'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	69	ARID.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		AGAATCAGTGGGGAGAAATTG	0.378000			"""N, S, F"""		hepatocellular carcinoma								7	32					0.00448238	0.00469811	1	1	0
VARS	7407	broad.mit.edu	37	6	31747546	31747546	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr6:31747546C>T	ENST00000375663.3	-	27	3567	c.3127G>A	c.(3127-3129)Gag>Aag	p.E1043K		NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	1043					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	CGGGCACACTCAGCTGCCACC	0.632000													9	28					0	0	1	0	0
MTOR	2475	broad.mit.edu	37	1	11288890	11288890	+	Silent	SNP	C	C	G			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr1:11288890C>G	ENST00000361445.4	-	19	2941	c.2865G>C	c.(2863-2865)ctG>ctC	p.L955L		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	955					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						AGATCCGCATCAGGGCCACCA	0.502000													10	36					0	0	1	0	0
ABCA2	20	broad.mit.edu	37	9	139908391	139908391	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr9:139908391C>T	ENST00000265662.5	-	28	4487	c.4340G>A	c.(4339-4341)cGc>cAc	p.R1447H	ABCA2_ENST00000341511.6_Missense_Mutation_p.R1447H|ABCA2_ENST00000371605.3_Missense_Mutation_p.R1446H			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1446					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GCAGTGGAAGCGTTTGACCAG	0.677000													7	13					0	0	1	0	0
ATXN10	25814	broad.mit.edu	37	22	46098718	46098718	+	Nonsense_Mutation	SNP	C	C	G			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr22:46098718C>G	ENST00000252934.5	+	5	903	c.638C>G	c.(637-639)tCa>tGa	p.S213*	ATXN10_ENST00000381061.4_Nonsense_Mutation_p.S149*|ATXN10_ENST00000498009.1_3'UTR	NM_013236.3	NP_037368.1	Q9UBB4	ATX10_HUMAN	ataxin 10	213					cell death|neuron projection development	dendrite|neuronal cell body|perinuclear region of cytoplasm				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	10		Ovarian(80;0.00973)|all_neural(38;0.0417)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0223)		CATCCTGAATCAGAATGGCCG	0.358000													16	38					0	0	1	0	0
TBX5	6910	broad.mit.edu	37	12	114823313	114823313	+	Silent	SNP	G	G	A			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr12:114823313G>A	ENST00000310346.4	-	7	1389	c.723C>T	c.(721-723)gaC>gaT	p.D241D	TBX5_ENST00000405440.2_Silent_p.D241D|TBX5_ENST00000349716.5_Silent_p.D191D|TBX5_ENST00000526441.1_Silent_p.D241D	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	241					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		GCAGCTCCATGTCATCACTGC	0.453000													7	26					0	0	1	0	0
KCNJ2	3759	broad.mit.edu	37	17	68171413	68171413	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr17:68171413A>G	ENST00000243457.3	+	2	616	c.233A>G	c.(232-234)gAc>gGc	p.D78G	KCNJ2_ENST00000535240.1_Missense_Mutation_p.D78G	NM_000891.2	NP_000882.1	P63252	IRK2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	78					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					ACGTGTGTGGACATTCGCTGG	0.512000													11	53					0	0	1	0	0
CHKB	1120	broad.mit.edu	37	22	51020270	51020270	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr22:51020270C>T	ENST00000406938.2	-	3	572	c.355G>A	c.(355-357)Gaa>Aaa	p.E119K	CHKB_ENST00000463053.1_5'UTR	NM_005198.4	NP_005189.2	Q9Y259	CHKB_HUMAN	choline kinase beta	119					phosphatidylethanolamine biosynthetic process		ATP binding|choline kinase activity|ethanolamine kinase activity	p.E119Q(1)		NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|ovary(3)|skin(1)|urinary_tract(1)	15		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;4.04e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.79e-74)|Epithelial(4;6.17e-70)|GBM - Glioblastoma multiforme(4;5.68e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.205)	Choline(DB00122)	ATCACGCTTTCTAGCACCAGG	0.617000													14	83					0	0	1	0	0
SLC7A4	6545	broad.mit.edu	37	22	21383721	21383721	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr22:21383721G>A	ENST00000382932.2	-	4	1703	c.1636C>T	c.(1636-1638)Ccc>Tcc	p.P546S	SLC7A4_ENST00000403586.1_Missense_Mutation_p.P546S	NM_004173.2	NP_004164.2	O43246	CTR4_HUMAN	solute carrier family 7, member 4	546					cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GGAATCAGGGGAACCATGGGG	0.592000													8	54					0	0	1	0	0
GPAM	57678	broad.mit.edu	37	10	113920454	113920454	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr10:113920454A>G	ENST00000348367.4	-	16	1864	c.1667T>C	c.(1666-1668)tTt>tCt	p.F556S	GPAM_ENST00000369425.1_Missense_Mutation_p.F556S|GPAM_ENST00000423155.1_Missense_Mutation_p.F556S			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	556					phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		GGGGGTGATAAAAAACTCATC	0.453000													4	21					0	0	1	0	0
CAPN5	726	broad.mit.edu	37	11	76823766	76823766	+	Silent	SNP	C	C	G			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr11:76823766C>G	ENST00000278559.3	+	4	618	c.429C>G	c.(427-429)gtC>gtG	p.V143V	CAPN5_ENST00000456580.2_Silent_p.V183V|CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Silent_p.V143V	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	143	Calpain catalytic.				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						TGCCCACAGTCAACAACCAGC	0.592000													10	26					0	0	1	0	0
ERCC4	2072	broad.mit.edu	37	16	14041695	14041695	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr16:14041695A>G	ENST00000311895.7	+	11	2251	c.2242A>G	c.(2242-2244)Atg>Gtg	p.M748V		NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 4	748	ERCC4.|Interaction with EME1 and ERCC1.				double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						GTGCATCTCCATGTCCCGCTA	0.502000			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				12	40					0	0	1	0	0
IKZF2	22807	broad.mit.edu	37	2	213914454	213914454	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr2:213914454T>C	ENST00000457361.1	-	5	725	c.557A>G	c.(556-558)cAc>cGc	p.H186R	IKZF2_ENST00000413091.3_Missense_Mutation_p.H186R|IKZF2_ENST00000374319.4_Missense_Mutation_p.H160R|IKZF2_ENST00000451136.2_Missense_Mutation_p.H160R|IKZF2_ENST00000421754.2_Missense_Mutation_p.H160R|IKZF2_ENST00000342002.2_Missense_Mutation_p.H192R|IKZF2_ENST00000374327.4_Intron|IKZF2_ENST00000434687.1_Missense_Mutation_p.H186R	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	186					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		GGTCCTGAGGTGTCCTGTGAG	0.443000													5	40					0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4722272	4722272	+	Silent	SNP	C	C	T			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr3:4722272C>T	ENST00000354582.6	+	25	3353	c.3003C>T	c.(3001-3003)tcC>tcT	p.S1001S	ITPR1_ENST00000443694.2_Silent_p.S986S|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000357086.4_Silent_p.S992S|ITPR1_ENST00000302640.8_Silent_p.S986S|ITPR1_ENST00000456211.2_Silent_p.S977S|ITPR1_ENST00000423119.2_Silent_p.S992S			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1001					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		ATAGGATCTCCTGCCTCCTGT	0.403000													4	40					0	0	1	0	0
CDC25C	995	broad.mit.edu	37	5	137665260	137665260	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr5:137665260C>G	ENST00000323760.6	-	3	549	c.271G>C	c.(271-273)Gca>Cca	p.A91P	CDC25C_ENST00000415130.2_Intron|CDC25C_ENST00000513970.1_Missense_Mutation_p.A91P|CDC25C_ENST00000514555.1_Missense_Mutation_p.A91P|CDC25C_ENST00000357274.3_Intron|CDC25C_ENST00000356505.3_Missense_Mutation_p.A91P|CDC25C_ENST00000348983.3_Intron	NM_001790.3	NP_001781.2	P30307	MPIP3_HUMAN	cell division cycle 25C	91					cell cycle checkpoint|cell division|cell proliferation|DNA replication|G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm	protein tyrosine phosphatase activity|WW domain binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			TCAAGGTCTGCAGAAGTGGTA	0.463000													14	57					0	0	1	0	0
GHITM	27069	broad.mit.edu	37	10	85909866	85909866	+	Silent	SNP	C	C	A			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr10:85909866C>A	ENST00000372134.3	+	7	841	c.648C>A	c.(646-648)atC>atA	p.I216I		NM_014394.2	NP_055209.2	Q9H3K2	GHITM_HUMAN	growth hormone inducible transmembrane protein	216					apoptosis	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(2)	10						CTCTTCTCATCAGAGCTGCAT	0.512000													7	42					8.12818e-05	8.7056e-05	1	1	0
PDIA3	2923	broad.mit.edu	37	15	44038746	44038746	+	Silent	SNP	C	C	T			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr15:44038746C>T	ENST00000300289.5	+	1	157	c.9C>T	c.(7-9)ctC>ctT	p.L3L	PDIA3_ENST00000538521.1_5'UTR|PDIA3_ENST00000469684.1_3'UTR	NM_005313.4	NP_005304.3	P30101	PDIA3_HUMAN	protein disulfide isomerase family A, member 3	3					cell redox homeostasis|glycerol ether metabolic process|post-translational protein modification|protein folding|protein import into nucleus|protein N-linked glycosylation via asparagine|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)		CCATGCGCCTCCGCCGCCTAG	0.726000													3	13					0	0	1	0	0
DCTN6	10671	broad.mit.edu	37	8	30021636	30021636	+	Silent	SNP	T	T	A			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr8:30021636T>A	ENST00000221114.3	+	2	120	c.33T>A	c.(31-33)atT>atA	p.I11I	DCTN6_ENST00000520829.1_Silent_p.I11I	NM_006571.3	NP_006562.1	O00399	DCTN6_HUMAN	dynactin 6	11						centrosome	transferase activity			endometrium(1)|lung(1)|ovary(1)|prostate(1)	4				KIRC - Kidney renal clear cell carcinoma(542;0.099)|Kidney(114;0.119)		GTGTGAAGATTGCTCCTGGAG	0.353000													6	7					0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1457485	1457485	+	Missense_Mutation	SNP	G	G	A	rs150812908		TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr2:1457485G>A	ENST00000345913.4	+	6	593	c.502G>A	c.(502-504)Gcc>Acc	p.A168T	TPO_ENST00000349624.3_Missense_Mutation_p.A168T|TPO_ENST00000382198.1_Missense_Mutation_p.A168T|TPO_ENST00000346956.3_Missense_Mutation_p.A168T|TPO_ENST00000329066.4_Missense_Mutation_p.A168T|TPO_ENST00000382201.3_Missense_Mutation_p.A168T|TPO_ENST00000497517.2_Intron|TPO_ENST00000337415.3_Missense_Mutation_p.A168T	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	168					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CAGATGGGGCGCCTCCAACAC	0.567000													17	65					0	0	1	0	0
LCMT2	9836	broad.mit.edu	37	15	43621620	43621620	+	Silent	SNP	C	C	T			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr15:43621620C>T	ENST00000305641.5	-	1	1183	c.1068G>A	c.(1066-1068)aaG>aaA	p.K356K	LCMT2_ENST00000567039.1_3'UTR|LCMT2_ENST00000544735.1_5'UTR	NM_014793.4	NP_055608.2	O60294	LCMT2_HUMAN	leucine carboxyl methyltransferase 2	356					tRNA processing		methyltransferase activity|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	GGCCATATCTCTTCAGGTTTG	0.567000													4	32					0	0	1	0	0
ROR2	4920	broad.mit.edu	37	9	94495419	94495419	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr9:94495419C>T	ENST00000375708.3	-	6	1120	c.922G>A	c.(922-924)Gag>Aag	p.E308K	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Missense_Mutation_p.E168K	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	308					negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CCCAGCCTCTCGGCTGGGATG	0.687000													3	8					0	0	1	0	0
APOA1	335	broad.mit.edu	37	11	116707864	116707864	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr11:116707864G>A	ENST00000236850.4	-	3	418	c.53C>T	c.(52-54)gCt>gTt	p.A18V	AP006216.12_ENST00000444200.1_RNA|APOA1_ENST00000375323.1_Missense_Mutation_p.A18V|APOA1_ENST00000359492.2_Missense_Mutation_p.A18V|APOA1_ENST00000375329.2_Intron|APOA1_ENST00000375320.1_Missense_Mutation_p.A18V	NM_000039.1	NP_000030.1	P02647	APOA1_HUMAN	apolipoprotein A-I	18					Cdc42 protein signal transduction|cholesterol efflux|cholesterol homeostasis|cholesterol import|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|negative regulation of cytokine secretion involved in immune response|negative regulation of interleukin-1 beta secretion|negative regulation of very-low-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|phospholipid efflux|platelet activation|platelet degranulation|positive regulation of cholesterol esterification|positive regulation of hydrolase activity|protein stabilization|reverse cholesterol transport	endocytic vesicle|endoplasmic reticulum lumen|plasma membrane|spherical high-density lipoprotein particle|stored secretory granule|very-low-density lipoprotein particle	apolipoprotein A-I receptor binding|beta-amyloid binding|cholesterol binding|cholesterol transporter activity|enzyme binding|high-density lipoprotein particle receptor binding|identical protein binding|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipid binding			cervix(1)|endometrium(1)|lung(4)|prostate(1)|skin(2)	9	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.59e-05)|all cancers(92;0.000162)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		GAAATGCCGAGCCTGGCTCCC	0.632000													8	45					0	0	1	0	0
SMEK2	57223	broad.mit.edu	37	2	55806843	55806843	+	Silent	SNP	G	G	C			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr2:55806843G>C	ENST00000272313.5	-	9	1767	c.1440C>G	c.(1438-1440)acC>acG	p.T480T	SMEK2_ENST00000345102.5_Silent_p.T480T|SMEK2_ENST00000407823.3_Silent_p.T480T	NM_020463.2	NP_065196.1	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	480						microtubule organizing center|nucleus	protein binding			kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CTGAAGTATTGGTCAAAAGTG	0.303000													5	25					0	0	1	0	0
CDK12	51755	broad.mit.edu	37	17	37627570	37627570	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr17:37627570G>C	ENST00000447079.4	+	2	1518	c.1485G>C	c.(1483-1485)ttG>ttC	p.L495F	CDK12_ENST00000430627.2_Missense_Mutation_p.L495F	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	495					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						TTAAAGATTTGAAAGCACAGG	0.408000			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			11	75					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124114129	124114129	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr3:124114129G>A	ENST00000360013.3	+	12	2231	c.2104G>A	c.(2104-2106)Gaa>Aaa	p.E702K	KALRN_ENST00000240874.3_Missense_Mutation_p.E702K|KALRN_ENST00000460856.1_Missense_Mutation_p.E702K	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	702					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CAAGGAAGGCGAAGACCTTAT	0.587000													3	17					0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193081968	193081968	+	Silent	SNP	G	G	A			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr3:193081968G>A	ENST00000342358.4	-	2	282	c.165C>T	c.(163-165)ccC>ccT	p.P55P		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	55					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		CTCTCCACTGGGGTCTCCAGT	0.537000													57	130					0	0	1	0	0
STK11IP	114790	broad.mit.edu	37	2	220476408	220476408	+	Silent	SNP	G	G	C			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr2:220476408G>C	ENST00000456909.1	+	18	2277	c.2187G>C	c.(2185-2187)cgG>cgC	p.R729R	STK11IP_ENST00000295641.10_Silent_p.R740R			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	740					protein localization	cytoplasm	protein kinase binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACAGGGAGCGGAAACAGGGAG	0.607000													17	45					0	0	1	0	0
SLC7A4	6545	broad.mit.edu	37	22	21384564	21384564	+	Silent	SNP	G	G	A			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr22:21384564G>A	ENST00000382932.2	-	3	1126	c.1059C>T	c.(1057-1059)ttC>ttT	p.F353F	SLC7A4_ENST00000403586.1_Silent_p.F353F	NM_004173.2	NP_004164.2	O43246	CTR4_HUMAN	solute carrier family 7, member 4	353					cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	ACACCTGGAAGAAGAGCCCAT	0.647000													6	35					0	0	1	0	0
MTFR1L	56181	broad.mit.edu	37	1	26149617	26149617	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr1:26149617G>A	ENST00000466284.1	+	1	1604	c.22G>A	c.(22-24)Gtg>Atg	p.V8M	MTFR1L_ENST00000469815.1_Intron|MTFR1L_ENST00000526894.1_Missense_Mutation_p.V8M|MTFR1L_ENST00000374303.2_Missense_Mutation_p.V8M|MTFR1L_ENST00000374300.3_Missense_Mutation_p.V8M|MTFR1L_ENST00000374301.3_Missense_Mutation_p.V8M|MTFR1L_ENST00000524618.1_5'UTR|RP1-317E23.6_ENST00000527604.1_3'UTR|MTFR1L_ENST00000374307.5_Missense_Mutation_p.V8M|MTFR1L_ENST00000474295.1_Missense_Mutation_p.V8M					mitochondrial fission regulator 1-like																		GGAAGCCACTGTGGTAAGGGG	0.572000													12	64					0	0	1	0	0
ARL13A	392509	broad.mit.edu	37	X	100240721	100240721	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chrX:100240721G>A	ENST00000450049.2	+	4	309	c.196G>A	c.(196-198)Gaa>Aaa	p.E66K		NM_001162491.1	NP_001155963.1	Q5H913	AR13A_HUMAN	ADP-ribosylation factor-like 13A	66							GTP binding			endometrium(1)|ovary(1)	2						AGATGAGTATGAACTTTCCAT	0.468000													4	13					0	0	1	0	0
OR10K1	391109	broad.mit.edu	37	1	158435384	158435384	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr1:158435384G>T	ENST00000289451.2	+	1	113	c.33G>T	c.(31-33)gaG>gaT	p.E11D		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					TGGTGAGAGAGTTCGTCGTCC	0.512000													6	20					8.12818e-05	8.7056e-05	1	1	0
SOX2	6657	broad.mit.edu	37	3	181430438	181430438	+	Missense_Mutation	SNP	T	T	G	rs104893802		TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr3:181430438T>G	ENST00000325404.1	+	1	717	c.290T>G	c.(289-291)cTg>cGg	p.L97R	SOX2_ENST00000431565.2_Missense_Mutation_p.L97R	NM_003106.3	NP_003097.1	P48431	SOX2_HUMAN	SRY (sex determining region Y)-box 2	97					cell cycle arrest|chromatin organization|eye development|glial cell fate commitment|inner ear development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell proliferation|negative regulation of neuron differentiation|osteoblast differentiation|pituitary gland development|positive regulation of MAPKKK cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of caspase activity|response to growth factor stimulus|response to wounding|somatic stem cell maintenance	cytosol|transcription factor complex	miRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	10	all_cancers(143;1.22e-16)|Ovarian(172;0.0283)		all cancers(12;1.82e-48)|Epithelial(37;9.85e-40)|OV - Ovarian serous cystadenocarcinoma(80;7.37e-23)|Lung(8;2.01e-21)|GBM - Glioblastoma multiforme(1;2.13e-08)			GCTAAGCGGCTGCGAGCGCTG	0.597000			A		"""NSCLC, oesophageal squamous carcinoma"""		MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME						4	24					0	0	1	0	0
TPCN2	219931	broad.mit.edu	37	11	68835069	68835069	+	Silent	SNP	C	C	T			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr11:68835069C>T	ENST00000294309.3	+	8	926	c.825C>T	c.(823-825)ccC>ccT	p.P275P	TPCN2_ENST00000542467.1_Silent_p.P275P|TPCN2_ENST00000442692.2_3'UTR	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	275					cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CCAACAACCCCGATGGTGCGT	0.642000													12	79					0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25888025	25888025	+	Nonsense_Mutation	SNP	C	C	G			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr10:25888025C>G	ENST00000376351.3	+	11	3829	c.3470C>G	c.(3469-3471)tCa>tGa	p.S1157*	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	1157						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TCCTATAACTCAAGTAATAAC	0.423000													7	26					0	0	1	0	0
SH2D7	646892	broad.mit.edu	37	15	78393264	78393264	+	Silent	SNP	C	C	T			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr15:78393264C>T	ENST00000328828.5	+	5	669	c.669C>T	c.(667-669)ctC>ctT	p.L223L	SH2D7_ENST00000409568.2_Silent_p.L87L	NM_001101404.1	NP_001094874.1	A6NKC9	SH2D7_HUMAN	SH2 domain containing 7	223										endometrium(2)|kidney(2)|lung(3)	7						TGTCTCCACTCCCTGAGAAGA	0.542000													5	34					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41710047	41710047	+	Silent	SNP	G	G	A			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr21:41710047G>A	ENST00000400454.1	-	8	2241	c.1764C>T	c.(1762-1764)agC>agT	p.S588S		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	588	Ig-like C2-type 6.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TCACGTGGACGCTCTGGCTGG	0.502000													8	77					0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1507832	1507832	+	Silent	SNP	C	C	T	rs142148533	byFrequency	TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr2:1507832C>T	ENST00000345913.4	+	14	2590	c.2499C>T	c.(2497-2499)gaC>gaT	p.D833D	TPO_ENST00000349624.3_Silent_p.D660D|TPO_ENST00000382198.1_Silent_p.D660D|TPO_ENST00000346956.3_Intron|TPO_ENST00000329066.4_Silent_p.D833D|TPO_ENST00000382201.3_Silent_p.D776D|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000337415.3_Silent_p.D833D	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	833	EGF-like; calcium-binding (Potential).				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	AGTTAGGAGACGATGGGAGAA	0.562000													12	25					0	0	1	0	0
RPS6KA4	8986	broad.mit.edu	37	11	64126887	64126887	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr11:64126887G>C	ENST00000528057.1	+	2	181	c.93G>C	c.(91-93)gaG>gaC	p.E31D	RPS6KA4_ENST00000334205.4_Missense_Mutation_p.E31D|RPS6KA4_ENST00000294261.4_Missense_Mutation_p.E31D	NM_001006944.1	NP_001006945.1	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 4	31					axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity			breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						TGAGCGTGGAGAACTTCGAGC	0.701000													4	43					0	0	1	0	0
IPO7	10527	broad.mit.edu	37	11	9431515	9431515	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr11:9431515G>C	ENST00000379719.3	+	4	503	c.361G>C	c.(361-363)Gat>Cat	p.D121H		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	121					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		CATCAAACATGATTATCCAAG	0.393000													17	30					0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150171112	150171112	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr7:150171112G>A	ENST00000307271.3	+	4	1269	c.695G>A	c.(694-696)aGg>aAg	p.R232K		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	232						endoplasmic reticulum|Golgi apparatus|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)		CCAAGGGAAAGGCAGCTGCAG	0.527000													7	85					0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123095791	123095791	+	Nonsense_Mutation	SNP	G	G	T			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr4:123095791G>T	ENST00000264501.4	+	5	650	c.277G>T	c.(277-279)Gaa>Taa	p.E93*	KIAA1109_ENST00000455637.1_Nonsense_Mutation_p.E93*|KIAA1109_ENST00000388738.3_Nonsense_Mutation_p.E93*			Q2LD37	K1109_HUMAN	KIAA1109	93					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TTACATTACAGAAGACATGTC	0.279000													3	23					0.004672	0.00484504	1	1	0
CHD7	55636	broad.mit.edu	37	8	61736594	61736594	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr8:61736594G>A	ENST00000525508.1	+	12	3397	c.3397G>A	c.(3397-3399)Gat>Aat	p.D1133N	CHD7_ENST00000524602.1_Intron|CHD7_ENST00000423902.2_Intron			Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	0	Helicase ATP-binding.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CCATATTGGTGATTGCACTGA	0.438000													9	66					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	17107538	17107538	+	Missense_Mutation	SNP	T	T	G			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr10:17107538T>G	ENST00000377833.4	-	22	3173	c.3108A>C	c.(3106-3108)ttA>ttC	p.L1036F		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1036	CUB 5.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CATAGTTTATTAAGAAGCCTT	0.428000													23	88					0	0	1	0	0
CHD3	1107	broad.mit.edu	37	17	7801368	7801368	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr17:7801368G>A	ENST00000380358.4	+	12	2177	c.2176G>A	c.(2176-2178)Gaa>Aaa	p.E726K	CHD3_ENST00000330494.7_Missense_Mutation_p.E667K|CHD3_ENST00000358181.4_Missense_Mutation_p.E667K	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	667					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				GGAGGAAGATGAAATGAATAT	0.473000													21	94					0	0	1	0	0
MYO9B	4650	broad.mit.edu	37	19	17212870	17212870	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr19:17212870G>C	ENST00000595618.1	+	2	495	c.343G>C	c.(343-345)Gat>Cat	p.D115H	MYO9B_ENST00000594824.1_Missense_Mutation_p.D115H|MYO9B_ENST00000397274.2_Missense_Mutation_p.D115H	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	115	Myosin head-like.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GCGCAACGCAGATGGAACCAT	0.662000													4	24					0	0	1	0	0
C2orf54	79919	broad.mit.edu	37	2	241831177	241831177	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr2:241831177G>A	ENST00000307486.8	-	2	169	c.71C>T	c.(70-72)tCg>tTg	p.S24L	C2orf54_ENST00000402775.2_Missense_Mutation_p.S5L|C2orf54_ENST00000388934.4_Missense_Mutation_p.S173L	NM_001282921.1	NP_001269850.1	Q08AI8	CB054_HUMAN	chromosome 2 open reading frame 54	173										haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		CGCGTTCAGCGAACCTGCAAA	0.652000													7	41					0	0	1	0	0
PHLDA1	22822	broad.mit.edu	37	12	76425160	76425160	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr12:76425160G>T	ENST00000266671.5	-	1	2552	c.362C>A	c.(361-363)cCg>cAg	p.P121Q	PHLDA1_ENST00000602540.1_5'UTR			Q8WV24	PHLA1_HUMAN	pleckstrin homology-like domain, family A, member 1	121					apoptosis	cytoplasmic vesicle membrane|nucleolus|plasma membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	14		Colorectal(145;0.09)				CGCGCGGGCCGGGGGCAGCAG	0.731000													5	17					1	1	1	1	0
BRINP1	1620	broad.mit.edu	37	9	121929760	121929760	+	Nonsense_Mutation	SNP	G	G	A			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr9:121929760G>A	ENST00000265922.3	-	8	2349	c.1888C>T	c.(1888-1890)Cga>Tga	p.R630*	BRINP1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2			bone morphogenetic protein/retinoic acid inducible neural-specific 1	630																	GTCTCATTTCGCAGTAGGGTA	0.537000													16	137					0	0	1	0	0
ALG10B	144245	broad.mit.edu	37	12	38710702	38710702	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr12:38710702C>G	ENST00000308742.4	+	1	323	c.7C>G	c.(7-9)Cag>Gag	p.Q3E	ALG10B_ENST00000551464.1_Missense_Mutation_p.Q3E	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	3					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				AGGAATGGCGCAGCTAGAGGG	0.592000											OREG0021733	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	160					0	0	1	0	0
TMED1	11018	broad.mit.edu	37	19	10945645	10945645	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr19:10945645C>T	ENST00000214869.2	-	3	528	c.430G>A	c.(430-432)Gag>Aag	p.E144K	TMED1_ENST00000588289.1_5'UTR|TMED1_ENST00000591695.1_Intron	NM_006858.2	NP_006849.1	Q13445	TMED1_HUMAN	transmembrane emp24 protein transport domain containing 1	144					cell-cell signaling|signal transduction|transport	integral to membrane|plasma membrane	receptor binding			breast(1)|central_nervous_system(2)|lung(2)|ovary(3)|prostate(1)|skin(1)	10						AGCATCTCCTCGGGCTCCACA	0.567000													15	120					0	0	1	0	0
SBNO2	22904	broad.mit.edu	37	19	1119621	1119621	+	Splice_Site	SNP	C	C	T			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr19:1119621C>T	ENST00000361757.3	-	13	1505		c.e13-1		SBNO2_ENST00000438103.2_Splice_Site|SBNO2_ENST00000587024.1_Splice_Site	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)						macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		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)		TCAGAGGCACCTGTGGGGGGA	0.662000													3	8					0	0	1	0	0
ZNF600	162966	broad.mit.edu	37	19	53268952	53268952	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr19:53268952C>T	ENST00000338230.3	-	3	2324	c.2057G>A	c.(2056-2058)gGa>gAa	p.G686E		NM_198457.2	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	686					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		AGTGTGAAGTCCAGTATGTTG	0.413000													17	28					0	0	1	0	0
MPI	4351	broad.mit.edu	37	15	75189514	75189514	+	Nonsense_Mutation	SNP	C	C	G			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr15:75189514C>G	ENST00000352410.4	+	7	1074	c.1007C>G	c.(1006-1008)tCa>tGa	p.S336*	MPI_ENST00000535694.1_Nonsense_Mutation_p.S286*|MPI_ENST00000563786.1_Nonsense_Mutation_p.S316*|MPI_ENST00000566377.1_Intron|MPI_ENST00000323744.6_Nonsense_Mutation_p.S275*			P34949	MPI_HUMAN	mannose phosphate isomerase	336					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	mannose-6-phosphate isomerase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						CCCTACCTCTCAATCTATGAC	0.517000													6	54					0	0	1	0	0
OR2C1	4993	broad.mit.edu	37	16	3406173	3406173	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr16:3406173T>C	ENST00000304936.2	+	1	285	c.233T>C	c.(232-234)gTc>gCc	p.V78A		NM_012368.2	NP_036500.2	O95371	OR2C1_HUMAN	olfactory receptor, family 2, subfamily C, member 1	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						ACTAGTTCAGTCCCCCAAATG	0.542000													6	59					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr17:7577538C>T	ENST00000420246.2	-	7	875	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GATGGGCCTCCGGTTCATGCC	0.572000	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			11	20					0	0	1	0	0
PCDHA12	56137	broad.mit.edu	37	5	140257037	140257037	+	Silent	SNP	G	G	A	rs116206336	by1000genomes	TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr5:140257037G>A	ENST00000398631.2	+	1	1980	c.1980G>A	c.(1978-1980)acG>acA	p.T660T	PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGCGCTGACGTCCACGGCCA	0.692000													12	47					0	0	1	0	0
EIF4H	7458	broad.mit.edu	37	7	73604598	73604598	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr7:73604598C>T	ENST00000265753.8	+	5	570	c.431C>T	c.(430-432)tCt>tTt	p.S144F	EIF4H_ENST00000353999.6_Intron|EIF4H_ENST00000495187.1_3'UTR	NM_022170.1	NP_071496.1	Q15056	IF4H_HUMAN	eukaryotic translation initiation factor 4H	144	HHV-1 Vhs binding site.				interspecies interaction between organisms|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity			endometrium(1)|lung(2)|prostate(1)	4						TCTCGAGAATCTAGAGGTGGA	0.413000													7	22					0	0	1	0	0
C8orf33	65265	broad.mit.edu	37	8	146279502	146279502	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr8:146279502C>G	ENST00000331434.6	+	5	763	c.649C>G	c.(649-651)Ctg>Gtg	p.L217V		NM_023080.2	NP_075568.1	Q9H7E9	CH033_HUMAN	chromosome 8 open reading frame 33	217										endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;9.1e-38)|all cancers(56;7.37e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.243)		CAAAGCCACTCTGGACATGCC	0.512000													19	150					0	0	1	0	0
SPATA21	374955	broad.mit.edu	37	1	16736407	16736407	+	Silent	SNP	C	C	T	rs145844310	byFrequency	TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr1:16736407C>T	ENST00000335496.1	-	6	758	c.276G>A	c.(274-276)gtG>gtA	p.V92V	SPATA21_ENST00000540400.1_Silent_p.V69V|SPATA21_ENST00000466212.1_5'UTR	NM_198546.1	NP_940948.1	Q7Z572	SPT21_HUMAN	spermatogenesis associated 21	92							calcium ion binding			breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		CCATTTTCTCCACCTCCAGCA	0.657000													8	21					0	0	1	0	0
HOXC9	3225	broad.mit.edu	37	12	54396375	54396375	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr12:54396375C>T	ENST00000303450.4	+	2	770	c.700C>T	c.(700-702)Cgg>Tgg	p.R234W	RP11-834C11.12_ENST00000513209.1_Intron|HOXC9_ENST00000504557.1_3'UTR|HOXC9_ENST00000508190.1_Missense_Mutation_p.R234W	NM_006897.1	NP_008828.1	P31274	HXC9_HUMAN	homeobox C9	234					multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14						TCTCACCGAGCGGCAGGTCAA	0.478000													6	52					0	0	1	0	0
CDH13	1012	broad.mit.edu	37	16	83065765	83065765	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr16:83065765C>T	ENST00000566620.1	+	3	598	c.308C>T	c.(307-309)gCg>gTg	p.A103V	CDH13_ENST00000565636.1_Missense_Mutation_p.A103V|CDH13_ENST00000569454.1_3'UTR|CDH13_ENST00000431540.3_Missense_Mutation_p.A103V|CDH13_ENST00000446376.2_Missense_Mutation_p.A103V|CDH13_ENST00000428848.3_Missense_Mutation_p.A103V|CDH13_ENST00000268613.10_Missense_Mutation_p.A150V	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	103			A -> V (in a patient with amyotrophic lateral sclerosis).		adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding	p.A103V(3)		large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		ACCCCCCATGCGGAAGATATG	0.512000													3	16					0	0	1	0	0
DYRK1B	9149	broad.mit.edu	37	19	40318956	40318956	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr19:40318956G>A	ENST00000593685.1	-	6	1256	c.788C>T	c.(787-789)tCc>tTc	p.S263F	DYRK1B_ENST00000323039.5_Missense_Mutation_p.S263F|DYRK1B_ENST00000430012.2_Missense_Mutation_p.S263F|DYRK1B_ENST00000597639.1_Missense_Mutation_p.S263F|DYRK1B_ENST00000348817.3_Missense_Mutation_p.S263F			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	263	Protein kinase.				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			AAGCTGGCAGGAGCTGCCGAA	0.632000													7	20					0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4722271	4722271	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr3:4722271C>T	ENST00000354582.6	+	25	3352	c.3002C>T	c.(3001-3003)tCc>tTc	p.S1001F	ITPR1_ENST00000443694.2_Missense_Mutation_p.S986F|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000357086.4_Missense_Mutation_p.S992F|ITPR1_ENST00000302640.8_Missense_Mutation_p.S986F|ITPR1_ENST00000456211.2_Missense_Mutation_p.S977F|ITPR1_ENST00000423119.2_Missense_Mutation_p.S992F			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1001					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		TATAGGATCTCCTGCCTCCTG	0.403000													4	41					0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7528479	7528479	+	Nonsense_Mutation	SNP	C	C	A	rs147256239	byFrequency	TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr12:7528479C>A	ENST00000313599.3	-	10	2560	c.2503G>T	c.(2503-2505)Gaa>Taa	p.E835*	CD163L1_ENST00000416109.2_Nonsense_Mutation_p.E845*|CD163L1_ENST00000544331.1_5'UTR|CD163L1_ENST00000396630.1_Nonsense_Mutation_p.E835*			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	835	SRCR 8.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CAGTTTAATTCTCTGCACAGC	0.468000													8	61					0.00307968	0.00324525	1	1	0
CLSTN1	22883	broad.mit.edu	37	1	9795075	9795075	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr1:9795075C>G	ENST00000377298.4	-	14	2833	c.2041G>C	c.(2041-2043)Gag>Cag	p.E681Q	CLSTN1_ENST00000361311.4_Missense_Mutation_p.E671Q|CLSTN1_ENST00000377288.3_Missense_Mutation_p.E662Q	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	681					homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		ATGCGAAGCTCAGGGAAAAGG	0.582000													18	85					0	0	1	0	0
A2M	2	broad.mit.edu	37	12	9265997	9265997	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr12:9265997G>C	ENST00000318602.7	-	2	536	c.229C>G	c.(229-231)Ctg>Gtg	p.L77V		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	77					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	TCCGCCTCCAGGTCAGTGAAG	0.502000													19	53					0	0	1	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20868203	20868203	+	Silent	SNP	T	T	C			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr12:20868203T>C	ENST00000381552.1	+	6	1028	c.660T>C	c.(658-660)aaT>aaC	p.N220N	SLCO1C1_ENST00000266509.2_Silent_p.N220N|SLCO1C1_ENST00000545102.1_Silent_p.N102N|SLCO1C1_ENST00000540354.1_Intron|SLCO1C1_ENST00000545604.1_Silent_p.N220N			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	220					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					GTGAAGACAATGCAGCTTTCT	0.413000													17	35					0	0	1	0	0
NUB1	51667	broad.mit.edu	37	7	151042520	151042520	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr7:151042520G>C	ENST00000568733.1	+	2	223	c.157G>C	c.(157-159)Gat>Cat	p.D53H	NUB1_ENST00000566856.1_Missense_Mutation_p.D29H|NUB1_ENST00000413040.2_Missense_Mutation_p.D53H|NUB1_ENST00000355851.4_Missense_Mutation_p.D29H			Q9Y5A7	NUB1_HUMAN	negative regulator of ubiquitin-like proteins 1	29					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	nucleus	protein binding			endometrium(1)|large_intestine(7)|lung(3)	11			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		TCCATATACAGATGAAAATAA	0.313000													7	16					0	0	1	0	0
CLPTM1	1209	broad.mit.edu	37	19	45476396	45476396	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr19:45476396C>G	ENST00000541297.2	+	3	661	c.196C>G	c.(196-198)Cag>Gag	p.Q66E	CLPTM1_ENST00000546079.1_5'UTR|CLPTM1_ENST00000337392.5_Missense_Mutation_p.Q80E			O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	80					cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		GCCGGCCCCTCAGGACCAGGC	0.632000													9	65					0	0	1	0	0
EIF3K	27335	broad.mit.edu	37	19	39127576	39127576	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr19:39127576A>G	ENST00000588934.1	+	5	485	c.402A>G	c.(400-402)atA>atG	p.I134M	EIF3K_ENST00000248342.4_3'UTR|EIF3K_ENST00000593149.1_3'UTR|EIF3K_ENST00000592558.1_3'UTR			Q9UBQ5	EIF3K_HUMAN	eukaryotic translation initiation factor 3, subunit K	0					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex|nucleus	protein binding|ribosome binding|translation initiation factor activity		EIF3K/CYP39A1(2)	central_nervous_system(1)|endometrium(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GGTGTTTAATAAAGATGTGTT	0.577000													32	48					0	0	1	0	0
MALAT1	378938	broad.mit.edu	37	11	65266456	65266456	+	RNA	SNP	G	G	A			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr11:65266456G>A	ENST00000534336.1	+	0	1224					NR_002819.2																						GAAGGTGATCGAATTCCGGTG	0.498000													27	111					0	0	1	0	0
RHBDL3	162494	broad.mit.edu	37	17	30643287	30643287	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr17:30643287C>G	ENST00000269051.4	+	8	933	c.919C>G	c.(919-921)Cgg>Ggg	p.R307G	RHBDL3_ENST00000538145.1_Missense_Mutation_p.R299G|RHBDL3_ENST00000536287.1_Missense_Mutation_p.R209G	NM_138328.2	NP_612201.1	P58872	RHBL3_HUMAN	rhomboid, veinlet-like 3 (Drosophila)	307					proteolysis	integral to membrane	calcium ion binding|serine-type endopeptidase activity	p.R307W(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1)	16		Breast(31;0.116)|Ovarian(249;0.182)				CAAGCTGCTGCGGATGGCTGT	0.547000													13	146					0	0	1	0	0
ARL13A	392509	broad.mit.edu	37	X	100240712	100240712	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chrX:100240712G>C	ENST00000450049.2	+	4	300	c.187G>C	c.(187-189)Gat>Cat	p.D63H		NM_001162491.1	NP_001155963.1	Q5H913	AR13A_HUMAN	ADP-ribosylation factor-like 13A	63							GTP binding			endometrium(1)|ovary(1)	2						ACTTTTGTTAGATGAGTATGA	0.458000													4	12					0	0	1	0	0
GPR61	83873	broad.mit.edu	37	1	110085875	110085875	+	Silent	SNP	C	C	G			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr1:110085875C>G	ENST00000527748.1	+	2	914	c.231C>G	c.(229-231)gtC>gtG	p.V77V	RP5-1160K1.8_ENST00000526411.1_RNA	NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	77						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		GAAAATTTGTCTTCGTCTTCC	0.607000													11	153					0	0	1	0	0
MBP	4155	broad.mit.edu	37	18	74692428	74692428	+	Splice_Site	SNP	C	C	A			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr18:74692428C>A	ENST00000355994.2	-	9	1134		c.e9-1		MBP_ENST00000397875.3_Splice_Site|MBP_ENST00000528160.1_Splice_Site|MBP_ENST00000354542.4_Splice_Site|MBP_ENST00000382582.3_Splice_Site|MBP_ENST00000578193.1_Splice_Site|MBP_ENST00000526111.1_Splice_Site|MBP_ENST00000397866.4_Splice_Site|MBP_ENST00000527041.1_Intron|MBP_ENST00000397869.3_Splice_Site|MBP_ENST00000359645.3_Splice_Site|MBP_ENST00000397865.5_Splice_Site|MBP_ENST00000580402.1_Splice_Site|RP11-862L9.3_ENST00000582763.1_RNA|MBP_ENST00000579129.1_Splice_Site	NM_001025101.1	NP_001020272.1	P02686	MBP_HUMAN	myelin basic protein						central nervous system development|immune response|synaptic transmission	plasma membrane	structural constituent of myelin sheath			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.79e-06)|BRCA - Breast invasive adenocarcinoma(31;0.113)|READ - Rectum adenocarcinoma(1;0.188)		CTCTTCCTCCCTGAAAAGGAA	0.542000													14	76					9.31168e-06	1.00834e-05	1	1	0
BTNL8	79908	broad.mit.edu	37	5	180377222	180377222	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr5:180377222G>A	ENST00000340184.4	+	8	1387	c.1181G>A	c.(1180-1182)cGt>cAt	p.R394H	BTNL8_ENST00000400707.3_Missense_Mutation_p.R269H|BTNL8_ENST00000533815.2_Missense_Mutation_p.R210H|BTNL8_ENST00000511704.1_Missense_Mutation_p.R278H|BTNL8_ENST00000508408.1_3'UTR|BTNL8_ENST00000505126.1_Missense_Mutation_p.R187H|BTNL8_ENST00000231229.4_3'UTR	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	394	B30.2/SPRY.					integral to membrane				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)			TTAAATCCCCGTTTTATCAGC	0.478000													5	9					0	0	1	0	0
TET1	80312	broad.mit.edu	37	10	70360764	70360764	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr10:70360764G>C	ENST00000373644.4	+	3	2150	c.1941G>C	c.(1939-1941)caG>caC	p.Q647H		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	647	Sufficient for binding to genomic CpG islands.				DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						AGAGGCCCCAGAGGGAAAAGA	0.308000													7	42					0	0	1	0	0
ZNF235	9310	broad.mit.edu	37	19	44791824	44791824	+	Silent	SNP	G	G	A			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr19:44791824G>A	ENST00000291182.4	-	5	1866	c.1764C>T	c.(1762-1764)gcC>gcT	p.A588A	ZNF235_ENST00000589799.1_Intron|ZNF235_ENST00000589248.1_Intron	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	588					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)				CGCTCTGATGGGCTTGAAGAT	0.483000													7	68					0	0	1	0	0
ZNF276	92822	broad.mit.edu	37	16	89788997	89788997	+	Silent	SNP	G	G	A			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr16:89788997G>A	ENST00000289816.5	+	2	351	c.39G>A	c.(37-39)tcG>tcA	p.S13S	ZNF276_ENST00000568064.1_Silent_p.S13S|ZNF276_ENST00000443381.2_Silent_p.S88S|ZNF276_ENST00000446326.2_5'UTR	NM_152287.3	NP_689500.2	Q8N554	ZN276_HUMAN	zinc finger protein 276	88					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		AGTTTTCCTCGAGAAGCCTGC	0.652000													15	50					0	0	1	0	0
SLC5A9	200010	broad.mit.edu	37	1	48701540	48701540	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr1:48701540G>A	ENST00000236495.5	+	11	1406	c.1356G>A	c.(1354-1356)atG>atA	p.M452I	SLC5A9_ENST00000533824.1_Missense_Mutation_p.M448I|SLC5A9_ENST00000438567.2_Missense_Mutation_p.M427I|SLC5A9_ENST00000420136.2_3'UTR	NM_001135181.1	NP_001128653.1	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	427						integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						AGGAGCTGATGGTGGTGGGCA	0.612000													7	51					0	0	1	0	0
CDS1	1040	broad.mit.edu	37	4	85556434	85556434	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr4:85556434C>T	ENST00000295887.5	+	8	1163	c.740C>T	c.(739-741)tCa>tTa	p.S247L		NM_001263.3	NP_001254.2	Q92903	CDS1_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1	247					signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		GTTCCAATATCAAGTGTTATC	0.313000													8	21					0	0	1	0	0
OR14K1	343170	broad.mit.edu	37	1	247902073	247902073	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr1:247902073C>G	ENST00000283225.2	+	1	157	c.157C>G	c.(157-159)Ctc>Gtc	p.L53V	RP11-634B7.4_ENST00000449298.1_RNA					olfactory receptor, family 14, subfamily K, member 1											NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1)	27						GGACCATCGTCTCCACATGGC	0.488000													16	41					0	0	1	0	0
ASGR2	433	broad.mit.edu	37	17	7010447	7010447	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr17:7010447C>G	ENST00000380952.2	-	7	799	c.535G>C	c.(535-537)Gtc>Ctc	p.V179L	ASGR2_ENST00000446679.2_Missense_Mutation_p.V160L|ASGR2_ENST00000355035.5_Missense_Mutation_p.V179L|ASGR2_ENST00000254850.7_Missense_Mutation_p.V155L	NM_001181.4|NM_001201352.1|NM_080912.3	NP_001172|NP_001188281.1|NP_550434	P07307	ASGR2_HUMAN	asialoglycoprotein receptor 2	179	C-type lectin.				cell surface receptor linked signaling pathway|endocytosis	focal adhesion|integral to membrane|nucleolus	asialoglycoprotein receptor activity|protein binding|sugar binding	p.V179F(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4)	18					Antihemophilic Factor(DB00025)	ACCCAGTTGACGGGGCAGCAG	0.662000													11	71					0	0	1	0	0
EXOSC10	5394	broad.mit.edu	37	1	11136911	11136911	+	Silent	SNP	G	G	A			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr1:11136911G>A	ENST00000376936.4	-	17	2023	c.1974C>T	c.(1972-1974)atC>atT	p.I658I	EXOSC10_ENST00000304457.7_Silent_p.I658I|EXOSC10_ENST00000544779.1_3'UTR	NM_001001998.1	NP_001001998.1	Q01780	EXOSX_HUMAN	exosome component 10	658					CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		TAAATAACGTGATGACAGCTG	0.488000													6	21					0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33004842	33004842	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr14:33004842A>G	ENST00000280979.4	+	3	577	c.407A>G	c.(406-408)tAc>tGc	p.Y136C	AKAP6_ENST00000557272.1_Missense_Mutation_p.Y136C|AKAP6_ENST00000557354.1_Missense_Mutation_p.Y136C	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	136					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)		CTGCTGTCTTACTCTGTCAAC	0.493000													24	47					0	0	1	0	0
ASRGL1	80150	broad.mit.edu	37	11	62159690	62159690	+	Silent	SNP	C	C	T			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr11:62159690C>T	ENST00000415229.2	+	7	1076	c.861C>T	c.(859-861)gcC>gcT	p.A287A	ASRGL1_ENST00000301776.5_Silent_p.A287A|CTD-2531D15.5_ENST00000526045.1_RNA	NM_001083926.1	NP_001077395.1	Q7L266	ASGL1_HUMAN	asparaginase like 1	287					asparagine catabolic process via L-aspartate|protein maturation	cytoplasm|microtubule cytoskeleton|nucleus	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity			endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	7					L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)	CCTGGGCAGCCGCCAAGGACG	0.517000											OREG0021023	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	69					0	0	1	0	0
COPS4	51138	broad.mit.edu	37	4	83978134	83978134	+	Silent	SNP	C	C	T			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr4:83978134C>T	ENST00000509093.1	+	5	1244	c.466C>T	c.(466-468)Ctg>Ttg	p.L156L	COPS4_ENST00000503682.1_Silent_p.L156L|COPS4_ENST00000264389.2_Silent_p.L156L|COPS4_ENST00000511653.1_Silent_p.L156L	NM_001258006.1	NP_001244935.1	Q9BT78	CSN4_HUMAN	COP9 signalosome subunit 4	156					cullin deneddylation	cytoplasm|signalosome	protein binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(2)	13		Hepatocellular(203;0.114)				TAGGCTATATCTGGAGGATGA	0.363000													8	44					0	0	1	0	0
ITPR3	3710	broad.mit.edu	37	6	33644592	33644592	+	Silent	SNP	C	C	T			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr6:33644592C>T	ENST00000374316.5	+	27	4390	c.3330C>T	c.(3328-3330)atC>atT	p.I1110I	ITPR3_ENST00000605930.1_Silent_p.I1110I			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	1110					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						ACAAGGTGATCAAGTCGGAGC	0.622000													9	46					0	0	1	0	0
ATXN10	25814	broad.mit.edu	37	22	46114359	46114359	+	Silent	SNP	G	G	A			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr22:46114359G>A	ENST00000252934.5	+	6	979	c.714G>A	c.(712-714)ctG>ctA	p.L238L	ATXN10_ENST00000381061.4_Silent_p.L174L	NM_013236.3	NP_037368.1	Q9UBB4	ATX10_HUMAN	ataxin 10	238					cell death|neuron projection development	dendrite|neuronal cell body|perinuclear region of cytoplasm				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	10		Ovarian(80;0.00973)|all_neural(38;0.0417)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0223)		TTCCCAAACTGAACAATCAAG	0.428000													5	59					0	0	1	0	0
ELANE	1991	broad.mit.edu	37	19	856106	856106	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr19:856106C>G	ENST00000590230.1	+	6	887	c.746C>G	c.(745-747)tCc>tGc	p.S249C	ELANE_ENST00000263621.1_Missense_Mutation_p.S249C			P08246	ELNE_HUMAN	elastase, neutrophil expressed	249					cellular calcium ion homeostasis|negative regulation of chemokine biosynthetic process|negative regulation of chemotaxis|negative regulation of inflammatory response|negative regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of MAP kinase activity|positive regulation of smooth muscle cell proliferation|protein catabolic process|proteolysis|response to UV	cell surface|extracellular region|stored secretory granule	bacterial cell surface binding|cytokine binding|heparin binding			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(1)|lung(4)|pancreas(1)	13					Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019)	ATCCAACGCTCCGAGGACAAC	0.667000													30	149					0	0	1	0	0
RNF39	80352	broad.mit.edu	37	6	30043546	30043546	+	Silent	SNP	C	C	G			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr6:30043546C>G	ENST00000244360.6	-	1	118	c.21G>C	c.(19-21)acG>acC	p.T7T	RNF39_ENST00000376751.3_Silent_p.T7T	NM_025236.3	NP_079512.2	Q9H2S5	RNF39_HUMAN	ring finger protein 39	7						cytoplasm	zinc ion binding										GTCTCAGTCTCGTCAAATCTC	0.552000													5	30					0	0	1	0	0
MIOS	54468	broad.mit.edu	37	7	7613733	7613733	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr7:7613733G>C	ENST00000340080.4	+	5	1720	c.1299G>C	c.(1297-1299)atG>atC	p.M433I	MIOS_ENST00000405785.1_Missense_Mutation_p.M433I	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	433										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AAATACTTATGAAGCAATACA	0.313000													3	16					0	0	1	0	0
TMEM59	9528	broad.mit.edu	37	1	54518790	54518790	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr1:54518790C>T	ENST00000234831.5	-	1	321	c.72G>A	c.(70-72)atG>atA	p.M24I	TMEM59_ENST00000371337.3_Missense_Mutation_p.M24I|TMEM59_ENST00000371341.1_Intron	NM_004872.3	NP_004863.2	Q9BXS4	TMM59_HUMAN	transmembrane protein 59	24						Golgi membrane|integral to membrane				kidney(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7						CGGCCAAGGCCATGGTCAGCA	0.652000													11	75					0	0	1	0	0
GPR61	83873	broad.mit.edu	37	1	110086039	110086039	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr1:110086039C>T	ENST00000527748.1	+	2	1078	c.395C>T	c.(394-396)tCg>tTg	p.S132L	RP5-1160K1.8_ENST00000526411.1_RNA	NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	132						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		GCCATCCTCTCGGTGTCAGCC	0.607000													10	83					0	0	1	0	0
ZMYND8	23613	broad.mit.edu	37	20	45920581	45920581	+	Nonsense_Mutation	SNP	C	C	A			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr20:45920581C>A	ENST00000311275.7	-	6	812	c.559G>T	c.(559-561)Gaa>Taa	p.E187*	ZMYND8_ENST00000458360.2_Nonsense_Mutation_p.E182*|ZMYND8_ENST00000540497.1_Nonsense_Mutation_p.E182*|ZMYND8_ENST00000396281.4_Nonsense_Mutation_p.E187*|ZMYND8_ENST00000471951.2_Nonsense_Mutation_p.E207*|ZMYND8_ENST00000360911.3_Nonsense_Mutation_p.E182*|ZMYND8_ENST00000461685.1_Nonsense_Mutation_p.E207*|ZMYND8_ENST00000446994.2_Nonsense_Mutation_p.E124*|ZMYND8_ENST00000372023.3_Nonsense_Mutation_p.E182*|ZMYND8_ENST00000352431.2_Nonsense_Mutation_p.E207*|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000262975.4_Nonsense_Mutation_p.E187*|ZMYND8_ENST00000355972.4_Nonsense_Mutation_p.E187*|ZMYND8_ENST00000536340.1_Nonsense_Mutation_p.E214*	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	187	Bromo.						protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			AAGATGTATTCCGCATAGTCA	0.458000													8	27					1.76689e-08	1.9347e-08	1	1	0
GORASP1	64689	broad.mit.edu	37	3	39141917	39141917	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr3:39141917C>T	ENST00000319283.3	-	6	1465	c.644G>A	c.(643-645)gGc>gAc	p.G215D	GORASP1_ENST00000422110.2_Missense_Mutation_p.G60D|GORASP1_ENST00000479927.1_Missense_Mutation_p.G120D	NM_031899.2	NP_114105.1	Q9BQQ3	GORS1_HUMAN	golgi reassembly stacking protein 1, 65kDa	215	Pro-rich.				mitotic prophase|protein transport	cytosol|Golgi apparatus|membrane				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(1)|ovary(3)|urinary_tract(1)	14				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		TGGTGGGGTGCCAGGTGGCTT	0.597000													9	14					0	0	1	0	0
ZNF334	55713	broad.mit.edu	37	20	45131371	45131371	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr20:45131371G>C	ENST00000457685.2	-	6	1816	c.493C>G	c.(493-495)Cag>Gag	p.Q165E	ZNF334_ENST00000593880.1_Missense_Mutation_p.Q226E|ZNF334_ENST00000347606.4_Missense_Mutation_p.Q203E			Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	203					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				TTCAAAATCTGAATGTTCTGG	0.368000													6	41					0	0	1	0	0
SPATA7	55812	broad.mit.edu	37	14	88892580	88892580	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr14:88892580C>T	ENST00000556553.1	+	6	840	c.281C>T	c.(280-282)tCa>tTa	p.S94L	SPATA7_ENST00000393545.4_Missense_Mutation_p.S126L|SPATA7_ENST00000356583.5_Missense_Mutation_p.S94L|SPATA7_ENST00000045347.7_Missense_Mutation_p.S126L			Q9P0W8	SPAT7_HUMAN	spermatogenesis associated 7	126					response to stimulus|visual perception			p.S126*(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						TCTTAGCCCTCAGGCGAACCG	0.383000													3	3					0	0	1	0	0
TRAM1L1	133022	broad.mit.edu	37	4	118005529	118005529	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr4:118005529A>G	ENST00000310754.4	-	1	1207	c.1021T>C	c.(1021-1023)Tct>Cct	p.S341P		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	341					protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						TTTTTAGAAGATCTCGACCGT	0.403000													10	77					0	0	1	0	0
ST8SIA1	6489	broad.mit.edu	37	12	22354791	22354791	+	Silent	SNP	G	G	A			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr12:22354791G>A	ENST00000396037.4	-	5	1247	c.766C>T	c.(766-768)Ctg>Ttg	p.L256L	ST8SIA1_ENST00000539510.1_Silent_p.L113L	NM_003034.3	NP_003025.1	Q92185	SIA8A_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1	256					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						ATGCTACGCAGAAAGTTGGGG	0.468000													14	48					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57326047	57326047	+	Nonsense_Mutation	SNP	G	G	A			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr19:57326047G>A	ENST00000326441.9	-	10	4126	c.3763C>T	c.(3763-3765)Cag>Tag	p.Q1255*	ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000598410.1_Nonsense_Mutation_p.Q1131*|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Nonsense_Mutation_p.Q1255*|PEG3_ENST00000593695.1_Nonsense_Mutation_p.Q1129*|ZIM2_ENST00000601070.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1255					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		ATCTGGCTCTGCTCCAGTAAA	0.483000													5	23					0	0	1	0	0
CTSZ	1522	broad.mit.edu	37	20	57581450	57581450	+	Silent	SNP	G	G	A			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr20:57581450G>A	ENST00000217131.5	-	2	352	c.234C>T	c.(232-234)agC>agT	p.S78S		NM_001336.3	NP_001327.2	Q9UBR2	CATZ_HUMAN	cathepsin Z	78					proteolysis	endoplasmic reticulum|extracellular space|lysosome	cysteine-type endopeptidase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)	10	all_lung(29;0.00711)		Colorectal(105;0.109)			TCCGGGTGATGCTGGCATAGT	0.632000													7	28					0	0	1	0	0
FAM198B	51313	broad.mit.edu	37	4	159091780	159091780	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr4:159091780C>T	ENST00000296530.8	-	2	1369	c.748G>A	c.(748-750)Gag>Aag	p.E250K	FAM198B_ENST00000592057.1_Missense_Mutation_p.E250K|FAM198B_ENST00000393807.5_Missense_Mutation_p.E250K|FAM198B_ENST00000585682.1_Missense_Mutation_p.E250K|FAM198B_ENST00000589306.1_Intron	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	250						Golgi membrane|integral to membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						GCGCCCCCCTCCAGCACCAGC	0.632000											OREG0016378	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	13					0	0	1	0	0
KCTD3	51133	broad.mit.edu	37	1	215777626	215777626	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr1:215777626G>C	ENST00000259154.4	+	13	1585	c.1291G>C	c.(1291-1293)Gag>Cag	p.E431Q		NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	431						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		CATGCTATCAGAGAAGCATCT	0.388000													5	33					0	0	1	0	0
PDE6C	5146	broad.mit.edu	37	10	95372807	95372807	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr10:95372807G>A	ENST00000371447.3	+	1	463	c.325G>A	c.(325-327)Gag>Aag	p.E109K		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	109	GAF 1.				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				CGGCATACCTGAGGTGGCCTC	0.607000													5	27					0	0	1	0	0
SYNPO	11346	broad.mit.edu	37	5	150028206	150028206	+	Silent	SNP	C	C	T			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr5:150028206C>T	ENST00000394243.1	+	3	1475	c.1101C>T	c.(1099-1101)ctC>ctT	p.L367L	SYNPO_ENST00000518872.1_3'UTR|SYNPO_ENST00000519664.1_Silent_p.L123L|SYNPO_ENST00000307662.4_Silent_p.L123L|SYNPO_ENST00000522122.1_Silent_p.L367L	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	367					positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGGCCCAACTCCCATCTAATG	0.577000													22	79					0	0	1	0	0
ZNF560	147741	broad.mit.edu	37	19	9577886	9577886	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr19:9577886T>A	ENST00000301480.4	-	10	1950	c.1737A>T	c.(1735-1737)aaA>aaT	p.K579N		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	579					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						CAGTGAAGGCTTTCCCACATT	0.403000													11	54					0	0	1	0	0
LRRTM1	347730	broad.mit.edu	37	2	80529681	80529681	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr2:80529681C>T	ENST00000295057.3	-	2	1920	c.1264G>A	c.(1264-1266)Gcc>Acc	p.A422T	CTNNA2_ENST00000402739.4_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.A422T|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000541047.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	422						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						ATCTGCACGGCGTTCTCGGCG	0.662000										HNSCC(69;0.2)			13	40					0	0	1	0	0
KMT2A	4297	broad.mit.edu	37	11	118374212	118374212	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr11:118374212G>T	ENST00000534358.1	+	27	7628	c.7605G>T	c.(7603-7605)gaG>gaT	p.E2535D	KMT2A_ENST00000354520.4_Missense_Mutation_p.E2494D|KMT2A_ENST00000389506.5_Missense_Mutation_p.E2532D	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		TGGAAAATGAGAGTCAATCCA	0.448000													6	37					0.00116845	0.00123792	1	1	0
ARHGEF25	115557	broad.mit.edu	37	12	58009791	58009791	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr12:58009791T>C	ENST00000286494.4	+	13	1871	c.1411T>C	c.(1411-1413)Ttc>Ctc	p.F471L	AC025165.8_ENST00000593846.1_RNA|AC025165.8_ENST00000610219.1_RNA|AC025165.8_ENST00000444467.1_RNA|ARHGEF25_ENST00000333972.7_Missense_Mutation_p.F510L|AC025165.8_ENST00000356672.3_RNA	NM_182947.3	NP_891992	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	471	Sufficient to bind activated GNAQ.				regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						CCAACGGGACTTCCTCAACGG	0.567000													9	49					0	0	1	0	0
STK39	27347	broad.mit.edu	37	2	168873576	168873576	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr2:168873576C>T	ENST00000355999.4	-	15	2111	c.1406G>A	c.(1405-1407)cGa>cAa	p.R469Q	STK39_ENST00000487143.1_5'UTR	NM_013233.2	NP_037365.2	Q9UEW8	STK39_HUMAN	serine threonine kinase 39	469					response to stress	cytoplasm|nucleus	ATP binding|protein binding|receptor signaling protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	13						AAACTCAAATCGTATGTCATT	0.313000													4	14					0	0	1	0	0
TTC18	118491	broad.mit.edu	37	10	75029411	75029411	+	Silent	SNP	A	A	G			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr10:75029411A>G	ENST00000310715.3	-	26	3318	c.3198T>C	c.(3196-3198)aaT>aaC	p.N1066N	TTC18_ENST00000493787.1_Intron|TTC18_ENST00000355577.3_Silent_p.N535N|TTC18_ENST00000394865.1_Silent_p.N1036N|TTC18_ENST00000340329.3_Silent_p.N306N|DNAJC9-AS1_ENST00000440197.2_RNA|TTC18_ENST00000401621.2_Silent_p.N1066N	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	1066							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					ATACTTCAGCATTGTAGTTGT	0.458000													6	25					0	0	1	0	0
ZC3H7B	23264	broad.mit.edu	37	22	41739457	41739457	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr22:41739457G>A	ENST00000352645.4	+	13	1593	c.1336G>A	c.(1336-1338)Gag>Aag	p.E446K	ZC3H7B_ENST00000351589.4_Missense_Mutation_p.E446K	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	462					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						TGAGGGCCTTGAGCACAAGTG	0.627000													22	52					0	0	1	0	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100451973	100451973	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr12:100451973G>C	ENST00000279907.7	-	14	3294	c.3082C>G	c.(3082-3084)Caa>Gaa	p.Q1028E	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.Q678E	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1028										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						AGTATGTTTTGATTACCATCA	0.318000													4	18					0	0	1	0	0
SLC30A3	7781	broad.mit.edu	37	2	27481113	27481113	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr2:27481113C>A	ENST00000233535.4	-	3	692	c.340G>T	c.(340-342)Ggc>Tgc	p.G114C	SLC30A3_ENST00000447008.2_Missense_Mutation_p.G109C	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3	114					regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATCATGCTGCCCACATCCGCC	0.607000													21	37					3.62473e-10	3.99128e-10	1	1	0
GGPS1	9453	broad.mit.edu	37	1	235506024	235506024	+	Silent	SNP	G	G	T			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr1:235506024G>T	ENST00000282841.5	+	4	1072	c.840G>T	c.(838-840)ggG>ggT	p.G280G	GGPS1_ENST00000391855.2_Silent_p.G226G|GGPS1_ENST00000358966.2_Silent_p.G280G|GGPS1_ENST00000476121.1_Silent_p.G280G|GGPS1_ENST00000488594.1_Silent_p.G280G			O95749	GGPPS_HUMAN	geranylgeranyl diphosphate synthase 1	280					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	dimethylallyltranstransferase activity|farnesyltranstransferase activity|geranyltranstransferase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	8	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;1.39e-05)			CACGTGGTGGGAACCCTGAGC	0.363000													5	12					0.000602214	0.000641489	1	1	0
NLGN2	57555	broad.mit.edu	37	17	7312031	7312031	+	Splice_Site	SNP	G	G	A			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr17:7312031G>A	ENST00000302926.2	+	1	530	c.457G>A	c.(457-459)Ggt>Agt	p.G153S	NLGN2_ENST00000575301.1_Splice_Site_p.G153S	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	153					cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				CACCGAGGACGGTAAGGGCGC	0.652000													6	18					0	0	1	0	0
SLC1A6	6511	broad.mit.edu	37	19	15083521	15083521	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr19:15083521T>C	ENST00000598504.1	-	4	1561	c.202A>G	c.(202-204)Att>Gtt	p.I68V	SLC1A6_ENST00000221742.3_Missense_Mutation_p.I68V|SLC1A6_ENST00000544886.2_Missense_Mutation_p.I68V|SLC1A6_ENST00000430939.2_Missense_Mutation_p.H72R|SLC1A6_ENST00000600144.1_Missense_Mutation_p.I68V	NM_001272087.1	NP_001259016.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	68					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	AGCTCACCAATGACCACGGCG	0.617000													6	14					0	0	1	0	0
ZC3H7B	23264	broad.mit.edu	37	22	41734347	41734347	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr22:41734347G>C	ENST00000352645.4	+	8	870	c.613G>C	c.(613-615)Gac>Cac	p.D205H	ZC3H7B_ENST00000351589.4_Missense_Mutation_p.D205H	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	205					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						GTCCATAGATGACATCGAAAC	0.617000													3	8					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10480436	10480436	+	Silent	SNP	G	G	A			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr8:10480436G>A	ENST00000382483.3	-	2	499	c.276C>T	c.(274-276)gcC>gcT	p.A92A	RP1L1_ENST00000329335.3_5'UTR	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	92					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GCTGCTCCAGGGCGCTGAGGC	0.647000													11	11					0	0	1	0	0
INHBB	3625	broad.mit.edu	37	2	121106682	121106682	+	Silent	SNP	C	C	T	rs145813735		TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr2:121106682C>T	ENST00000295228.3	+	2	502	c.456C>T	c.(454-456)ctC>ctT	p.L152L		NM_002193.2	NP_002184.2	P09529	INHBB_HUMAN	inhibin, beta B	152					activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity			NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15		Prostate(154;0.122)				CAGATGGCCTCGCCTCCTCCC	0.552000													7	47					0	0	1	0	0
MS4A4E	643680	broad.mit.edu	37	11	59997456	59997456	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr11:59997456C>G	ENST00000528394.1	-	1	72	c.73G>C	c.(73-75)Gat>Cat	p.D25H	MS4A4E_ENST00000398986.2_Missense_Mutation_p.D25H|MS4A4E_ENST00000425663.1_Missense_Mutation_p.D25H|MS4A4E_ENST00000526086.1_Missense_Mutation_p.D25H|MS4A4E_ENST00000427611.2_5'UTR|MS4A4E_ENST00000398984.2_Missense_Mutation_p.D25H					membrane-spanning 4-domains, subfamily A, member 4E											ovary(1)	1						TGTATGACATCTATGTTTCCC	0.463000													6	8					0	0	1	0	0
IL1RAP	3556	broad.mit.edu	37	3	190326899	190326899	+	Nonsense_Mutation	SNP	C	C	T			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr3:190326899C>T	ENST00000412504.2	+	4	718	c.466C>T	c.(466-468)Cag>Tag	p.Q156*	IL1RAP_ENST00000317757.3_Nonsense_Mutation_p.Q156*|IL1RAP_ENST00000443369.2_Nonsense_Mutation_p.Q156*|IL1RAP_ENST00000422485.1_Nonsense_Mutation_p.Q156*|IL1RAP_ENST00000447382.1_Nonsense_Mutation_p.Q156*|IL1RAP_ENST00000434491.1_Nonsense_Mutation_p.Q15*|IL1RAP_ENST00000422940.1_Nonsense_Mutation_p.Q156*|IL1RAP_ENST00000072516.3_Nonsense_Mutation_p.Q156*|IL1RAP_ENST00000439062.1_Nonsense_Mutation_p.Q156*			Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	156	Ig-like C2-type 2.				inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		ATATGGCATTCAGAGGATCAC	0.373000													6	39					0	0	1	0	0
IPO7	10527	broad.mit.edu	37	11	9430080	9430080	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr11:9430080G>A	ENST00000379719.3	+	3	356	c.214G>A	c.(214-216)Gaa>Aaa	p.E72K		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	72	Importin N-terminal.				interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		GCCTGATCGAGAAACAGCACC	0.363000													11	14					0	0	1	0	0
ZNHIT2	741	broad.mit.edu	37	11	64884261	64884261	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr11:64884261C>T	ENST00000310597.4	-	1	909	c.865G>A	c.(865-867)Gag>Aag	p.E289K		NM_014205.2	NP_055020.1	Q9UHR6	ZNHI2_HUMAN	zinc finger, HIT-type containing 2	289							metal ion binding			breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						CGGGCGACCTCGTGCATAGCC	0.706000													5	53					0	0	1	0	0
ATRNL1	26033	broad.mit.edu	37	10	116925335	116925335	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr10:116925335G>A	ENST00000355044.3	+	7	1148	c.1022G>A	c.(1021-1023)aGt>aAt	p.S341N	ATRNL1_ENST00000529665.1_3'UTR|ATRNL1_ENST00000527407.1_Intron	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	341						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TTAGAAAGCAGTATATGGAAT	0.318000													4	12					0	0	1	0	0
RHOB	388	broad.mit.edu	37	2	20647449	20647449	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr2:20647449C>A	ENST00000272233.4	+	1	615	c.223C>A	c.(223-225)Ccg>Acg	p.P75T		NM_004040.2	NP_004031.1	P62745	RHOB_HUMAN	ras homolog family member B	75					angiogenesis|axon guidance|cell adhesion|endosome to lysosome transport|negative regulation of cell cycle|platelet activation|positive regulation of angiogenesis|protein transport|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|transformed cell apoptosis	cytosol|late endosome membrane|nucleus|plasma membrane	GTP binding|GTPase activity|protein binding			breast(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(2)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)	all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164)		OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19)		GCTCTCCTACCCGGACACCGA	0.647000													12	85					0.0135373	0.0139648	1	1	0
THSD7B	80731	broad.mit.edu	37	2	138414453	138414453	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr2:138414453A>T	ENST00000409968.1	+	23	4371	c.4193A>T	c.(4192-4194)cAg>cTg	p.Q1398L	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.Q1401L|THSD7B_ENST00000413152.2_Missense_Mutation_p.Q1370L					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GTGGGCCGCCAGTCTAGATCA	0.468000													5	44					0	0	1	0	0
FLT4	2324	broad.mit.edu	37	5	180055979	180055979	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr5:180055979C>T	ENST00000261937.6	-	8	1084	c.1006G>A	c.(1006-1008)Gag>Aag	p.E336K	FLT4_ENST00000393347.3_Missense_Mutation_p.E336K|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Missense_Mutation_p.E336K	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	336	Ig-like C2-type 4.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	TTGAGCCACTCGACGCTGATG	0.627000													10	25					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10359805	10359805	+	Silent	SNP	G	G	A			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr17:10359805G>A	ENST00000255381.2	-	17	2075	c.1965C>T	c.(1963-1965)ttC>ttT	p.F655F	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	655	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						ACTGTACCCTGAAAAGAGCTG	0.303000													4	17					0	0	1	0	0
OR5AP2	338675	broad.mit.edu	37	11	56409301	56409301	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr11:56409301G>C	ENST00000544374.1	-	1	646	c.618C>G	c.(616-618)atC>atG	p.I206M	OR5AP2_ENST00000302981.1_Missense_Mutation_p.I205M			Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP, member 2	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						AGAATGCCATGATCACAATGC	0.433000													13	150					0	0	1	0	0
ALDH4A1	8659	broad.mit.edu	37	1	19201943	19201943	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr1:19201943C>G	ENST00000375341.3	-	13	1650	c.1393G>C	c.(1393-1395)Gag>Cag	p.E465Q	RP13-279N23.2_ENST00000494072.3_3'UTR|ALDH4A1_ENST00000538309.1_Missense_Mutation_p.E405Q|ALDH4A1_ENST00000290597.5_Missense_Mutation_p.E465Q|ALDH4A1_ENST00000538839.1_Missense_Mutation_p.E414Q	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4 family, member A1	465					proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	NADH(DB00157)	TGCAGCGTCTCCTTGTACTTG	0.627000											OREG0013164	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	58					0	0	1	0	0
MBTPS2	51360	broad.mit.edu	37	X	21863341	21863341	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chrX:21863341C>G	ENST00000365779.2	+	3	358	c.277C>G	c.(277-279)Ctc>Gtc	p.L93V	MBTPS2_ENST00000379484.5_Missense_Mutation_p.L93V|MBTPS2_ENST00000465888.1_3'UTR			O43462	MBTP2_HUMAN	membrane-bound transcription factor peptidase, site 2	93					cholesterol metabolic process|proteolysis	Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity			breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						CTCATTTTTTCTCCTTGGAAA	0.393000													15	16					0	0	1	0	0
CACNG5	27091	broad.mit.edu	37	17	64881347	64881347	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr17:64881347C>T	ENST00000533854.1	+	6	1055	c.818C>T	c.(817-819)tCa>tTa	p.S273L	CACNG5_ENST00000307139.3_Missense_Mutation_p.S273L			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	273				SAGVMSVYLFMKRYTAEDMYRPHPGFYRPRLSNCSDYSGQF LHPDAWVRGRSPSDISSEASLQMNSNYPALLKCPDYDQMSS SPC -> VKPVTLSMDRLGLGTAPLSRGEWGWGRRDIPQPF WTPDHPLYFPSSSQNVSLSYLSGSPPARMSPGPCSCPHVHF PPHSSCVLCRPQPREMRQAPAASPSSAVFSL (in Ref. 1; AAF03089).	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			ATGTCCTCTTCACCCTGCTGA	0.642000													10	42					0	0	1	0	0
MYOM3	127294	broad.mit.edu	37	1	24426229	24426230	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr1:24426229_24426230delAA	ENST00000330966.7	-	6	761_762	c.599_600delTT	c.(598-600)tttfs	p.F200fs	MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000374434.3_Frame_Shift_Del_p.F199fs|MYOM3_ENST00000329601.7_Frame_Shift_Del_p.F199fs			Q5VTT5	MYOM3_HUMAN	myomesin 3	199	Ig-like C2-type 1.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TTCCGGCACGAAAGAGGCGGGG	0.569													10	53	---	---	---	---					
PRPF38B	55119	broad.mit.edu	37	1	109241791	109241793	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr1:109241791_109241793delAGG	ENST00000370021.1	+	7	1094_1096	c.457_459delAGG	c.(457-459)aggdel	p.R154del	PRPF38B_ENST00000370025.4_In_Frame_Del_p.R265del			Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B	265					mRNA processing|RNA splicing	spliceosomal complex				NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		TAGGTCTCCAAGGAGATCTCTGA	0.409													8	51	---	---	---	---					
SCAF8	22828	broad.mit.edu	37	6	155099149	155099149	+	Frame_Shift_Del	DEL	G	G	-			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr6:155099149delG	ENST00000367178.3	+	3	705	c.129delG	c.(127-129)gtgfs	p.V44fs	SCAF8_ENST00000367186.4_Frame_Shift_Del_p.V110fs|SCAF8_ENST00000461219.1_3'UTR|SCAF8_ENST00000417268.1_Frame_Shift_Del_p.V44fs	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	44	CID.				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						ATAAACATGTGGTACAGAGTG	0.318													2	4	---	---	---	---					
NUDT22	84304	broad.mit.edu	37	11	63997567	63997567	+	RNA	DEL	A	A	-	rs11364788		TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr11:63997567delA	ENST00000534988.1	-	0	99																											GTGACTTGGGAAAAAAAAAAA	0.498													3	2	---	---	---	---					
NAALADL1	10004	broad.mit.edu	37	11	64815017	64815017	+	Frame_Shift_Del	DEL	C	C	-			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr11:64815017delC	ENST00000358658.3	-	13	1556	c.1529delG	c.(1528-1530)ggcfs	p.G510fs	NAALADL1_ENST00000526799.1_Intron|NAALADL1_ENST00000355721.3_Frame_Shift_Del_p.G469fs|NAALADL1_ENST00000340252.4_Frame_Shift_Del_p.G561fs|NAALADL1_ENST00000356632.3_Frame_Shift_Del_p.G475fs|NAALADL1_ENST00000355369.2_Intron|NAALADL1_ENST00000339885.2_Intron|NAALADL1_ENST00000528884.1_Intron	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1	510	NAALADase.				proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						ATAGTCGCTGCCAGCACCCAG	0.652													2	4	---	---	---	---					
CNP	1267	broad.mit.edu	37	17	40125722	40125723	+	Frame_Shift_Ins	INS	-	-	A			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr17:40125722_40125723insA	ENST00000393892.3	+	4	1190_1191	c.1046_1047insA	c.(1045-1050)ttagagfs	p.E350fs	CNP_ENST00000591072.1_Frame_Shift_Ins_p.E115fs|CNP_ENST00000393888.1_Frame_Shift_Ins_p.E330fs|CNP_ENST00000472031.1_3'UTR	NM_033133.4	NP_149124.3	P09543	CN37_HUMAN	2',3'-cyclic nucleotide 3' phosphodiesterase						cell killing|cyclic nucleotide catabolic process|RNA metabolic process|synaptic transmission	extracellular space|melanosome	2',3'-cyclic-nucleotide 3'-phosphodiesterase activity|ATP binding|protein binding			breast(1)|kidney(2)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	9		all_cancers(22;2.38e-06)|all_epithelial(22;6.79e-05)|Breast(137;0.000143)		UCEC - Uterine corpus endometrioid carcinoma (308;0.171)		CTTGACCTCTTAGAGATTCTGC	0.653													8	19	---	---	---	---					
DSC3	1825	broad.mit.edu	37	18	28602454	28602454	+	Frame_Shift_Del	DEL	C	C	-			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chr18:28602454delC	ENST00000434452.1	-	7	944	c.790delG	c.(790-792)gtgfs	p.V265fs	DSC3_ENST00000360428.4_Frame_Shift_Del_p.V265fs	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	265	Cadherin 2.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			GCACAAACCACCCCCACTGTA	0.383													7	37	---	---	---	---					
MBTPS2	51360	broad.mit.edu	37	X	21863334	21863335	+	Frame_Shift_Ins	INS	-	-	T			TCGA-K4-A4AC-01A-21D-A26M-08	TCGA-K4-A4AC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8cd0a03-0c2b-44b1-864f-3109c02c617d	be646878-91f5-4e52-8ee0-4e47f969c10a	g.chrX:21863334_21863335insT	ENST00000365779.2	+	3	351_352	c.270_271insT	c.(271-273)tttfs	p.F91fs	MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000379484.5_Frame_Shift_Ins_p.F91fs			O43462	MBTP2_HUMAN	membrane-bound transcription factor peptidase, site 2	91					cholesterol metabolic process|proteolysis	Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity			breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						TGTTTAGCTCATTTTTTCTCCT	0.391													18	26	---	---	---	---