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
ARHGEF10	9639	broad.mit.edu	37	8	1871979	1871979	+	Silent	SNP	G	G	A			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr8:1871979G>A	uc003wpr.3	+	20	2605	c.2427G>A	c.(2425-2427)acG>acA	p.T809T	ARHGEF10_uc003wpq.1_Silent_p.T833T|ARHGEF10_uc003wps.3_Silent_p.T771T|ARHGEF10_uc003wpv.3_Silent_p.T542T|ARHGEF10_uc010lre.3_Silent_p.T489T	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10 (ARHGEF10), mRNA.	834					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	Rho guanyl-nucleotide exchange factor activity|kinesin binding			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)		TGTTCAATACGTTCACCCCTG	0.517000													15	62					0	0	1	0	0
PCSK9	255738	broad.mit.edu	37	1	55512217	55512217	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr1:55512217G>A	uc001cyf.2	+	2	783	c.421G>A	c.(421-423)Gac>Aac	p.D141N	PCSK9_uc010ool.2_Non-coding_Transcript|PCSK9_uc010oom.2_Intron	NM_174936	NP_777596	Q8NBP7	PCSK9_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 9 (PCSK9), mRNA.	141					cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						GCCCCATGTCGACTACATCGA	0.602000													33	48					0	0	1	0	0
WNT9B	7484	broad.mit.edu	37	17	44953734	44953734	+	Missense_Mutation	SNP	T	T	A			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr17:44953734T>A	uc002ikw.1	+	3	761	c.724T>A	c.(724-726)Tat>Aat	p.Y242N	WNT9B_uc002ikx.1_Missense_Mutation_p.Y242N	NM_003396	NP_003387	O14905	WNT9B_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 9B (WNT9B), mRNA.	242					Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway|anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|extracellular matrix structural constituent			large_intestine(2)|lung(8)	10			BRCA - Breast invasive adenocarcinoma(9;0.0257)			GAAACTGCGCTATGACTCGGC	0.647000													37	46					0	0	1	0	0
ILDR1	286676	broad.mit.edu	37	3	121724124	121724124	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr3:121724124C>T	uc003ees.3	-	2	549	c.346G>A	c.(346-348)Gat>Aat	p.D116N	ILDR1_uc003eeq.3_Missense_Mutation_p.D128N|ILDR1_uc003eer.3_Missense_Mutation_p.D116N|ILDR1_uc010hrg.3_Missense_Mutation_p.D116N	NM_001199799	NP_001186728	Q86SU0	ILDR1_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 1 (ILDR1), transcript variant 1, mRNA.	116	Ig-like V-type.					cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		TGCCGGTAATCTACCCCCAGC	0.652000													13	26					0	0	1	0	0
FAM111A	63901	broad.mit.edu	37	11	58920290	58920290	+	Missense_Mutation	SNP	T	T	G			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr11:58920290T>G	uc010rkp.2	+	4	1376	c.1149T>G	c.(1147-1149)tgT>tgG	p.C383W	FAM111A_uc010rkq.2_Missense_Mutation_p.C383W|FAM111A_uc010rkr.2_Missense_Mutation_p.C383W|FAM111A_uc001nno.3_Missense_Mutation_p.C383W|FAM111A_uc001nnp.3_Missense_Mutation_p.C383W|FAM111A_uc001nnq.3_Missense_Mutation_p.C383W	NM_001142521	NP_942144	Q96PZ2	F111A_HUMAN	Homo sapiens family with sequence similarity 111, member A (FAM111A), transcript variant 5, mRNA.	383					proteolysis		serine-type endopeptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				TTTTAACTTGTCGGCATGTAA	0.428000													14	86					0	0	1	0	0
SMARCA2	6595	broad.mit.edu	37	9	2039779	2039779	+	Silent	SNP	G	G	A	rs113070757	byFrequency	TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr9:2039779G>A	uc003zhc.3	+	3	768	c.669G>A	c.(667-669)caG>caA	p.Q223Q	SMARCA2_uc003zhd.3_Silent_p.Q223Q|SMARCA2_uc010mha.3_Silent_p.Q214Q	NM_003070	NP_003061	P51531	SMCA2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 (SMARCA2), transcript variant 1, mRNA.	223	Poly-Gln.				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	SWI/SNF complex|WINAC complex|intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm	ATP binding|DNA-dependent ATPase activity|RNA polymerase II transcription coactivator activity|helicase activity|protein binding|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		agcagcaacagcagcagcagc	0.642000													4	29					0	0	1	0	0
F12	2161	broad.mit.edu	37	5	176832137	176832137	+	Missense_Mutation	SNP	T	T	C			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr5:176832137T>C	uc003mgo.4	-	5	496	c.447A>G	c.(445-447)atA>atG	p.I149M		NM_000505	NP_000496	P00748	FA12_HUMAN	Homo sapiens coagulation factor XII (Hageman factor) (F12), mRNA.	149	Fibronectin type-I.				Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation	extracellular space|plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTCTATACCATATCTCATTCT	0.552000									Hereditary Angioedema				18	35					0	0	1	0	0
LIPT1	51601	broad.mit.edu	37	2	99778887	99778887	+	Missense_Mutation	SNP	T	T	C			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr2:99778887T>C	uc002szp.4	+	2	628	c.590T>C	c.(589-591)cTt>cCt	p.L197P	MRPL30_uc002szl.1_Intron|LIPT1_uc002szm.4_Missense_Mutation_p.L156P|LIPT1_uc002szn.4_Missense_Mutation_p.L156P|LIPT1_uc002szo.4_Missense_Mutation_p.L156P|LIPT1_uc002szq.4_Missense_Mutation_p.L156P|MRPL30_uc002szr.3_Intron|LIPT1_uc021vln.1_Missense_Mutation_p.L156P|LIPT1_uc021vlo.1_Missense_Mutation_p.L156P|LIPT1_uc021vlp.1_Missense_Mutation_p.L156P	NM_145199	NP_660200	Q9Y234	LIPT_HUMAN	Homo sapiens lipoyltransferase 1 (LIPT1), nuclear gene encoding mitochondrial protein, transcript variant 5, mRNA.	156					lipid metabolic process|protein lipoylation	mitochondrion	acyltransferase activity			large_intestine(6)|lung(1)	7					Lipoic Acid(DB00166)	GACCTTTTACTTGATGGACAG	0.413000													10	58					0	0	1	0	0
COL6A2	1292	broad.mit.edu	37	21	47552223	47552223	+	Silent	SNP	C	C	T			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr21:47552223C>T	uc002zia.1	+	27	2899	c.2817C>T	c.(2815-2817)caC>caT	p.H939H	COL6A2_uc010gqe.2_Non-coding_Transcript	NM_001849	NP_001840	P12110	CO6A2_HUMAN	Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA.	939	Nonhelical region.|VWFA 3.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CCCGGAGGCACGCAGAGCTGT	0.657000													13	17					0	0	1	0	0
VPS4B	9525	broad.mit.edu	37	18	61067363	61067363	+	Missense_Mutation	SNP	A	A	C			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr18:61067363A>C	uc002lix.3	-	6	968	c.708T>G	c.(706-708)atT>atG	p.I236M	VPS4B_uc010dpx.3_Missense_Mutation_p.I236M|VPS4B_uc010dpy.3_Missense_Mutation_p.I118M|VPS4B_uc010dpz.1_Missense_Mutation_p.I118M	NM_004869	NP_004860	O75351	VPS4B_HUMAN	Homo sapiens vacuolar protein sorting 4 homolog B (S. cerevisiae) (VPS4B), mRNA.	236					cell cycle|cell division|cellular membrane organization|endosome to lysosome transport via multivesicular body sorting pathway|intracellular cholesterol transport|protein transport|response to lipid	cytosol|early endosome|late endosome membrane|lysosome|nucleus|vacuolar membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding			breast(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	13						AGAGAGAATCAATTTCATCAA	0.343000													26	26					0	0	1	0	0
PTPN23	25930	broad.mit.edu	37	3	47452431	47452431	+	Missense_Mutation	SNP	C	C	G			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr3:47452431C>G	uc003crf.1	+	19	3239	c.3143C>G	c.(3142-3144)cCa>cGa	p.P1048R	PTPN23_uc011baw.1_Missense_Mutation_p.P1013R|PTPN23_uc011bax.1_Intron|PTPN23_uc011bay.1_Missense_Mutation_p.P918R	NM_015466	NP_056281	Q9H3S7	PTN23_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 23 (PTPN23), mRNA.	1048	His.|Pro-rich.				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCCCATCCCCCACTGGCATAT	0.672000													24	28					0	0	1	0	0
STAG1	10274	broad.mit.edu	37	3	136323151	136323151	+	Splice_Site	SNP	C	C	T			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr3:136323151C>T	uc003era.1	-	4	589	c.297_splice	c.e4+1	p.Q99_splice	STAG1_uc003erb.1_Splice_Site_p.Q99_splice|STAG1_uc003erc.1_Splice_Site|STAG1_uc010hua.1_Splice_Site|STAG1_uc003ere.3_Splice_Site_p.Q99_splice	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN	Homo sapiens stromal antigen 1 (STAG1), mRNA.	99					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						TAAAATTTACCTGCATTGCAC	0.403000													43	48					0	0	1	0	0
MAPK4	5596	broad.mit.edu	37	18	48190668	48190668	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr18:48190668C>T	uc002lev.3	+	1	1340	c.340C>T	c.(340-342)Cgc>Tgc	p.R114C	MAPK4_uc010xdm.2_Intron|MAPK4_uc010doz.3_Missense_Mutation_p.R114C	NM_002747	NP_002738	P31152	MK04_HUMAN	Homo sapiens mitogen-activated protein kinase 4 (MAPK4), mRNA.	114	Protein kinase.				cell cycle		ATP binding|MAP kinase activity	p.R114C(2)		lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		CGACCTGGCACGCCTGCTGGA	0.612000													44	55					0	0	1	0	0
PTGFRN	5738	broad.mit.edu	37	1	117491980	117491980	+	Silent	SNP	G	G	A			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr1:117491980G>A	uc001egv.1	+	3	1136	c.999G>A	c.(997-999)cgG>cgA	p.R333R		NM_020440	NP_065173	Q9P2B2	FPRP_HUMAN	Homo sapiens prostaglandin F2 receptor negative regulator (PTGFRN), mRNA.	333	Ig-like C2-type 3.					Golgi apparatus|endoplasmic reticulum membrane|integral to membrane	protein binding	p.R333L(2)		NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		TGTTGGCGCGGCTTGACCGTG	0.577000													42	54					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13865875	13865875	+	Nonsense_Mutation	SNP	G	G	T			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr5:13865875G>T	uc003jfd.2	-	26	4299	c.4257C>A	c.(4255-4257)taC>taA	p.Y1419*		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1419	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGACACTGTTGTACAGAGTAT	0.353000									Kartagener syndrome				21	19					0	0	1	0	0
ARPP21	10777	broad.mit.edu	37	3	35778809	35778809	+	Silent	SNP	G	G	A			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr3:35778809G>A	uc011axy.2	+	13	1709	c.1497G>A	c.(1495-1497)caG>caA	p.Q499Q	ARPP21_uc003cga.3_Silent_p.Q479Q|ARPP21_uc003cgb.3_Silent_p.Q533Q|ARPP21_uc003cgf.3_Silent_p.Q334Q|ARPP21_uc003cgg.3_Silent_p.Q21Q	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	Homo sapiens cAMP-regulated phosphoprotein, 21kDa (ARPP21), transcript variant 1, mRNA.	533						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						CCCAACAGCAGGTCCAGCCAC	0.647000													21	30					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62292206	62292206	+	Missense_Mutation	SNP	A	A	G			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr11:62292206A>G	uc001ntl.3	-	4	9983	c.9683T>C	c.(9682-9684)cTt>cCt	p.L3228P	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	3228					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)				AGGGCCTTTAAGATTGAGGTC	0.408000													99	68					0	0	1	0	0
USP53	54532	broad.mit.edu	37	4	120213506	120213506	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr4:120213506G>A	uc003ics.4	+	17	3428	c.2362G>A	c.(2362-2364)Gaa>Aaa	p.E788K	USP53_uc003icr.4_Missense_Mutation_p.E788K|USP53_uc003icu.4_Missense_Mutation_p.E411K	NM_019050	NP_061923	Q70EK8	UBP53_HUMAN	Homo sapiens ubiquitin specific peptidase 53 (USP53), mRNA.	788					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						ACATGTACATGAAGACAATGG	0.328000													11	12					0	0	1	0	0
ANKRD20A2	441430	broad.mit.edu	37	2	95514946	95514946	+	Splice_Site	SNP	C	C	T	rs143937878	by1000genomes	TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr2:95514946C>T	uc010fhp.3	-	4		c.505_splice	c.e4+1					Q5SQ80	A20A2_HUMAN	Homo sapiens ankyrin repeat domain 20 family, member A8, pseudogene (ANKRD20A8P), non-coding RNA.									p.R201Q(1)		large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	4						ACTACTGTACCGTCTCAGCCT	0.308000													4	83					0	0	1	0	0
SLAIN2	57606	broad.mit.edu	37	4	48385799	48385799	+	Missense_Mutation	SNP	C	C	A			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr4:48385799C>A	uc003gya.4	+	5	1502	c.1358C>A	c.(1357-1359)gCc>gAc	p.A453D	SLAIN2_uc003gyb.1_Missense_Mutation_p.A123D	NM_020846	NP_065897	Q9P270	SLAI2_HUMAN	Homo sapiens SLAIN motif family, member 2 (SLAIN2), mRNA.	453						centrosome				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)	13						CAGGCTTCAGCCAGTAAGTAT	0.353000													6	12					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577498	7577498	+	Splice_Site	SNP	C	C	T			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr17:7577498C>T	uc002gim.2	-	7	976	c.782_splice	c.e7+1	p.S261_splice	TP53_uc002gig.1_Splice_Site_p.R261_splice|TP53_uc002gih.3_Splice_Site_p.S261_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Splice_Site_p.S129_splice|TP53_uc010cnf.1_Splice_Site_p.S129_splice|TP53_uc002gii.1_Splice_Site_p.S129_splice|TP53_uc010cni.1_Splice_Site_p.S261_splice|TP53_uc010cnh.1_Splice_Site_p.S261_splice|TP53_uc002gij.2_Splice_Site_p.S261_splice|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	261	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		S -> C (in a sporadic cancer; somatic mutation).|S -> G (in sporadic cancers; somatic mutation).|S -> I (in sporadic cancers; somatic mutation).|S -> N (in a sporadic cancer; somatic mutation).|S -> R (in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(29)|p.0?(8)|p.E258fs*71(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)		TGGCTCCTGACCTGGAGTCTT	0.572000		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)			27	55					0	0	1	0	0
ZNF77	58492	broad.mit.edu	37	19	2934121	2934121	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr19:2934121C>T	uc002lws.4	-	3	1135	c.1004G>A	c.(1003-1005)tGt>tAt	p.C335Y		NM_021217	NP_067040	Q15935	ZNF77_HUMAN	Homo sapiens zinc finger protein 77 (ZNF77), mRNA.	335					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				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)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		AGACGAGTAACAAGTGAACGC	0.488000													26	7					0	0	1	0	0
CNOT4	4850	broad.mit.edu	37	7	135080618	135080618	+	Silent	SNP	C	C	T			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr7:135080618C>T	uc003vsv.2	-	8	1228	c.897G>A	c.(895-897)acG>acA	p.T299T	CNOT4_uc011kpy.2_Silent_p.T299T|CNOT4_uc011kpz.2_Silent_p.T296T|CNOT4_uc003vst.3_Silent_p.T299T|CNOT4_uc003vss.3_Silent_p.T296T|CNOT4_uc003vsu.2_Silent_p.T296T	NM_001190848	NP_001177777	O95628	CNOT4_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 4 (CNOT4), transcript variant 4, mRNA.	299					nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	RNA binding|nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						GTGGTGAAGGCGTATCACTGT	0.368000													12	33					0	0	1	0	0
NTM	50863	broad.mit.edu	37	11	132180094	132180094	+	Silent	SNP	A	A	C			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr11:132180094A>C	uc010sci.2	+	5	1081	c.750A>C	c.(748-750)tcA>tcC	p.S250S	NTM_uc001qgm.3_Silent_p.S250S|NTM_uc010sch.2_Silent_p.S241S|NTM_uc010scj.2_Silent_p.S209S|NTM_uc001qgo.3_Silent_p.S250S|NTM_uc001qgq.3_Silent_p.S250S|NTM_uc001qgp.3_Silent_p.S250S	NM_001144058	NP_001137530	Q9P121	NTRI_HUMAN	Homo sapiens neurotrimin (NTM), transcript variant 3, mRNA.	250	Ig-like C2-type 3.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane		p.P249P(1)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						CAGTCCCCTCAGCAGAATTCC	0.507000													76	78					0	0	1	0	0
POLQ	10721	broad.mit.edu	37	3	121260219	121260219	+	Nonsense_Mutation	SNP	T	T	A			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr3:121260219T>A	uc003eee.4	-	2	580	c.451A>T	c.(451-453)Aaa>Taa	p.K151*		NM_199420	NP_955452	O75417	DPOLQ_HUMAN	Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA.	151	Helicase ATP-binding.				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA-directed DNA polymerase activity|damaged DNA binding|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TTCTTCTCTTTAGCCACAGAA	0.358000								DNA polymerases (catalytic subunits)					47	54					0	0	1	0	0
CYP7B1	9420	broad.mit.edu	37	8	65527731	65527731	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr8:65527731C>T	uc003xvj.2	-	3	1113	c.909G>A	c.(907-909)tgG>tgA	p.W303*		NM_004820	NP_004811	O75881	CP7B1_HUMAN	Homo sapiens cytochrome P450, family 7, subfamily B, polypeptide 1 (CYP7B1), mRNA.	303					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				AATACATTGCCCAGAACATAG	0.443000													4	41					0	0	1	0	0
GIMAP4	55303	broad.mit.edu	37	7	150269308	150269308	+	Silent	SNP	C	C	T			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr7:150269308C>T	uc003whl.3	+	2	232	c.150C>T	c.(148-150)atC>atT	p.I50I	GIMAP4_uc011kuu.2_5'UTR|GIMAP4_uc011kuv.2_Silent_p.I64I	NM_018326	NP_060796	Q9NUV9	GIMA4_HUMAN	Homo sapiens GTPase, IMAP family member 4 (GIMAP4), mRNA.	50							GTP binding	p.I50>?(2)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAAACAGCATCCTTGGCCGGA	0.478000													19	29					0	0	1	0	0
RPS6KA3	6197	broad.mit.edu	37	X	20185863	20185863	+	Silent	SNP	T	T	C			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chrX:20185863T>C	uc004czu.3	-	16	1446	c.1446A>G	c.(1444-1446)gtA>gtG	p.V482V	RPS6KA3_uc011mjk.2_Silent_p.V452V|RPS6KA3_uc004czv.3_Silent_p.V469V|RPS6KA3_uc011mjl.2_Silent_p.V453V|RPS6KA3_uc011mjm.2_Silent_p.V454V	NM_004586	NP_004577	P51812	KS6A3_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 3 (RPS6KA3), mRNA.	482	Protein kinase 2.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|axon guidance|central nervous system development|innate immune response|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41						CATCATCATATACCTATAAAT	0.274000													3	44					0	0	1	0	0
DGKZ	8525	broad.mit.edu	37	11	46397946	46397946	+	Splice_Site	SNP	C	C	T	rs146211585	byFrequency	TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr11:46397946C>T	uc001ncn.1	+	24	2850	c.2725_splice	c.e24+1	p.A909_splice	DGKZ_uc001nch.2_Splice_Site_p.A737_splice|DGKZ_uc010rgq.2_Splice_Site_p.A703_splice|DGKZ_uc010rgr.2_Splice_Site_p.A725_splice|DGKZ_uc001ncj.2_Splice_Site_p.A687_splice|DGKZ_uc001nck.2_Splice_Site_p.A499_splice|DGKZ_uc001ncm.2_Splice_Site_p.A720_splice|DGKZ_uc001ncl.2_Splice_Site_p.A721_splice|DGKZ_uc009yky.1_Splice_Site_p.A721_splice|DGKZ_uc010rgs.1_Splice_Site_p.A698_splice|MIR4688_uc021qim.1_5'Flank	NM_001105540	NP_001099010	Q13574	DGKZ_HUMAN	Homo sapiens diacylglycerol kinase, zeta (DGKZ), transcript variant 4, mRNA.	909					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein C-terminus binding|protein binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		GCTTCCTGGACGGTGAGTCTA	0.612000													38	104					0	0	1	0	0
MAPK7	5598	broad.mit.edu	37	17	19284178	19284178	+	Missense_Mutation	SNP	C	C	A			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr17:19284178C>A	uc002gvn.3	+	3	1042	c.656C>A	c.(655-657)aCt>aAt	p.T219N	B9D1_uc010cqm.1_5'Flank|MAPK7_uc002gvo.3_Missense_Mutation_p.T80N|MAPK7_uc002gvq.3_Missense_Mutation_p.T219N|MAPK7_uc002gvp.3_Missense_Mutation_p.T219N	NM_139033	NP_620601	Q13164	MK07_HUMAN	Homo sapiens mitogen-activated protein kinase 7 (MAPK7), transcript variant 1, mRNA.	219	Necessary for oligomerization (By similarity).|Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|cell cycle|cell differentiation|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					TACTTCATGACTGAGTATGTG	0.527000													4	71					0	0	1	0	0
CDK20	23552	broad.mit.edu	37	9	90584735	90584735	+	Silent	SNP	G	G	A	rs113461285		TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr9:90584735G>A	uc004apr.3	-	5	997	c.663C>T	c.(661-663)ggC>ggT	p.G221G	CDK20_uc004aps.3_Silent_p.G200G|CDK20_uc022bjj.1_Silent_p.G200G|CDK20_uc004apt.3_Silent_p.G213G|CDK20_uc004apu.3_Intron	NM_001039803	NP_001034892	Q8IZL9	CDK20_HUMAN	Homo sapiens cyclin-dependent kinase 20 (CDK20), transcript variant 3, mRNA.	221	Protein kinase.				cell division|multicellular organismal development	cilium|mitochondrion|nucleus	ATP binding|cyclin-dependent protein kinase activity			skin(1)	1						GGTTTGGGGTGCCCAAGATGC	0.577000													43	50					0	0	1	0	0
HIST1H2AB	8335	broad.mit.edu	37	6	26033580	26033580	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr6:26033580C>T	uc003nft.1	-	0	217	c.217G>A	c.(217-219)Gac>Aac	p.D73N	HIST1H3B_uc003nfs.1_5'Flank	NM_003513	NP_066390	P04908	H2A1B_HUMAN	Homo sapiens histone cluster 1, H2ab (HIST1H2AB), mRNA.	73					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						TTCTTGTTGTCGCGGGCCGCA	0.647000													54	54					0	0	1	0	0
SOX9	6662	broad.mit.edu	37	17	70120195	70120195	+	Silent	SNP	G	G	A			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr17:70120195G>A	uc002jiw.3	+	2	1569	c.1197G>A	c.(1195-1197)acG>acA	p.T399T		NM_000346	NP_000337	P48436	SOX9_HUMAN	Homo sapiens SRY (sex determining region Y)-box 9 (SOX9), mRNA.	399					cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			ACATCAAGACGGAGCAGCTGA	0.682000													10	175					0	0	1	0	0
LONRF3	79836	broad.mit.edu	37	X	118109480	118109480	+	Missense_Mutation	SNP	T	T	G			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chrX:118109480T>G	uc004eqw.3	+	0	768	c.737T>G	c.(736-738)cTc>cGc	p.L246R	LONRF3_uc004eqx.3_Missense_Mutation_p.L246R|LONRF3_uc004eqy.3_Non-coding_Transcript|LONRF3_uc004eqz.3_5'Flank	NM_001031855	NP_001027026	Q496Y0	LONF3_HUMAN	Homo sapiens LON peptidase N-terminal domain and ring finger 3 (LONRF3), transcript variant 1, mRNA.	246					proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						GCGTCGCAACTCCGGCACGAG	0.687000													10	0					0	0	1	0	0
CR627148	0	broad.mit.edu	37	9	66466226	66466226	+	RNA	SNP	A	A	G			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr9:66466226A>G	uc004aec.3	+	2		c.859A>G								Homo sapiens, clone IMAGE:5213378, mRNA.																		cctagcggagagagagccgga	0.453000													3	7					0	0	1	0	0
MST1P2	11209	broad.mit.edu	37	1	16976825	16976825	+	RNA	SNP	C	C	A	rs2761525	by1000genomes	TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr1:16976825C>A	uc010och.2	+	13		c.2546C>A			MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		taataaaattcatatttttac	0.373000													5	28					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124339330	124339330	+	Missense_Mutation	SNP	C	C	A			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr10:124339330C>A	uc001lgk.1	+	9	1022	c.916C>A	c.(916-918)Cat>Aat	p.H306N	DMBT1_uc001lgl.1_Missense_Mutation_p.H306N|DMBT1_uc001lgm.1_Missense_Mutation_p.H306N|DMBT1_uc021qaf.1_Missense_Mutation_p.H306N|DMBT1_uc021qag.1_Missense_Mutation_p.H306N|DMBT1_uc021qah.1_Missense_Mutation_p.H306N|DMBT1_uc009xzz.1_Missense_Mutation_p.H306N|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Missense_Mutation_p.H158N	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	306	SRCR 2.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CTGCTCAGGACATGAGTCCTA	0.607000													6	127					0	0	1	0	0
MYRIP	25924	broad.mit.edu	37	3	40286039	40286039	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr3:40286039G>A	uc003cka.3	+	12	2338	c.2203G>A	c.(2203-2205)Gcg>Acg	p.A735T	MYRIP_uc010hhu.3_Non-coding_Transcript|MYRIP_uc010hhv.3_Missense_Mutation_p.A670T|MYRIP_uc010hhw.3_Missense_Mutation_p.A646T|MYRIP_uc011ayz.2_Missense_Mutation_p.A548T|FLJ33065_uc003ckb.3_Intron	NM_015460	NP_056275	Q8NFW9	MYRIP_HUMAN	Homo sapiens myosin VIIA and Rab interacting protein (MYRIP), mRNA.	735	Actin-binding.				intracellular protein transport		actin binding|zinc ion binding	p.A735A(2)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		GACCCATCTGGCGGATCTGGA	0.607000													23	24					0	0	1	0	0
ARHGAP5	394	broad.mit.edu	37	14	32562648	32562648	+	Missense_Mutation	SNP	C	C	A			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr14:32562648C>A	uc001wrl.3	+	1	3012	c.2773C>A	c.(2773-2775)Cat>Aat	p.H925N	ARHGAP5_uc001wrm.3_Missense_Mutation_p.H925N|ARHGAP5_uc001wrn.3_Missense_Mutation_p.H925N|ARHGAP5_uc001wro.3_Intron|ARHGAP5_uc001wrp.3_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Homo sapiens Rho GTPase activating protein 5 (ARHGAP5), transcript variant 2, mRNA.	925					Rho protein signal transduction|cell adhesion	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		ATCTCAGTATCATCGGCAAAC	0.323000													21	17					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578382	7578382	+	Nonsense_Mutation	SNP	G	G	C			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr17:7578382G>C	uc002gim.2	-	4	742	c.548C>G	c.(547-549)tCa>tGa	p.S183*	TP53_uc002gig.1_Nonsense_Mutation_p.S183*|TP53_uc002gih.3_Nonsense_Mutation_p.S183*|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Nonsense_Mutation_p.S51*|TP53_uc010cnf.1_Nonsense_Mutation_p.S51*|TP53_uc002gii.1_Nonsense_Mutation_p.S51*|TP53_uc010cni.1_Nonsense_Mutation_p.S183*|TP53_uc010cnh.1_Nonsense_Mutation_p.S183*|TP53_uc002gij.2_Nonsense_Mutation_p.S183*|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Nonsense_Mutation_p.S90*|TP53_uc002gio.2_Nonsense_Mutation_p.S51*|TP53_uc010vug.2_Nonsense_Mutation_p.S144*	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	183	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		S -> L (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.S183*(54)|p.P177_C182delPHHERC(8)|p.C182S(8)|p.0?(8)|p.C182*(5)|p.H178_S183delHHERCS(4)|p.S183L(4)|p.R174fs*24(3)|p.S183P(3)|p.S90*(2)|p.S51*(2)|p.V173fs*59(2)|p.?(2)|p.C182R(2)|p.E180_S183del(2)|p.C182Y(2)|p.C182C(2)|p.K164_P219del(1)|p.V173fs*23(1)|p.P177_C182del(1)|p.D184fs*4(1)|p.R42fs*24(1)|p.C182fs*4(1)|p.R81fs*24(1)|p.H46_S51delHHERCS(1)|p.C182fs*65(1)|p.H85_S90delHHERCS(1)|p.E171fs*61(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)		ATCGCTATCTGAGCAGCGCTC	0.647000		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)			48	40					0	0	1	0	0
CLCNKA	1187	broad.mit.edu	37	1	16357051	16357051	+	Missense_Mutation	SNP	C	C	G			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr1:16357051C>G	uc001axu.3	+	14	1584	c.1504C>G	c.(1504-1506)Ctg>Gtg	p.L502V	CLCNKA_uc001axt.3_Non-coding_Transcript|CLCNKA_uc010obw.2_Missense_Mutation_p.L459V|CLCNKA_uc001axv.3_Missense_Mutation_p.L502V|CLCNKA_uc010obx.1_Missense_Mutation_p.L149V|CLCNKA_uc010oby.1_Missense_Mutation_p.L238V|CLCNKA_uc021ogl.1_Intron	NM_004070	NP_004061	P51800	CLCKA_HUMAN	Homo sapiens chloride channel Ka (CLCNKA), transcript variant 1, mRNA.	502					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	ACTGCCCGTGCTGATGGCGGT	0.617000													14	79					0	0	1	0	0
PTEN	5728	broad.mit.edu	37	10	89692904	89692904	+	Nonsense_Mutation	SNP	C	C	T	rs121913292		TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr10:89692904C>T	uc001kfb.3	+	4	1420	c.388C>T	c.(388-390)Cga>Tga	p.R130*	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	130	Phosphatase tensin-type.		R -> G (loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3).|R -> L (in CD and endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|R -> Q (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).		T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R130G(212)|p.R130*(135)|p.R130Q(68)|p.0?(37)|p.R130fs*4(16)|p.R130L(13)|p.K128_R130del(8)|p.R130P(7)|p.G129R(7)|p.?(5)|p.R55fs*1(5)|p.G129*(4)|p.G129V(3)|p.R130R(2)|p.Y27_N212>Y(2)|p.G129E(2)|p.A121_F145del(2)|p.Y27fs*1(2)|p.G129fs*50(2)|p.G129fs*51(2)|p.K128fs*47(1)|p.F56fs*2(1)|p.G129fs*5(1)|p.R130?(1)|p.R130fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGGAAAGGGACGAACTGGTGT	0.403000	R130G(KMBC2_URINARY_TRACT)|R130G(OV56_OVARY)	31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			39	10					0	0	1	0	0
C9orf86	55684	broad.mit.edu	37	9	139726296	139726296	+	Missense_Mutation	SNP	C	C	A			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr9:139726296C>A	uc004cjj.1	+	5	1039	c.582C>A	c.(580-582)ttC>ttA	p.F194L	C9orf86_uc004cjm.2_Missense_Mutation_p.F194L|C9orf86_uc004cjh.3_Missense_Mutation_p.F194L|C9orf86_uc004cji.1_Missense_Mutation_p.F194L|C9orf86_uc004cjk.1_Non-coding_Transcript|C9orf86_uc004cjl.1_Non-coding_Transcript|C9orf86_uc010nbs.1_Missense_Mutation_p.F79L	NM_001173988	NP_001167459	Q3YEC7	PARF_HUMAN	Homo sapiens chromosome 9 open reading frame 86 (C9orf86), transcript variant 3, mRNA.	194	Small GTPase-like.				small GTPase mediated signal transduction	cytoplasm|nucleus	GTP binding|protein binding			endometrium(4)|kidney(1)|lung(4)	9	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.61e-05)|Epithelial(140;0.000183)		TGCGTGACTTCATCGACAACC	0.672000													12	16					0	0	1	0	0
NOVA1	4857	broad.mit.edu	37	14	26949251	26949251	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr14:26949251C>T	uc001wqa.3	-	3	799	c.13G>A	c.(13-15)Gtg>Atg	p.V5M	NOVA1_uc001wpy.3_Missense_Mutation_p.V127M|NOVA1_uc001wpz.3_Missense_Mutation_p.V127M|NOVA1_uc001wqb.3_Missense_Mutation_p.V127M	NM_002515	NP_002506	P51513	NOVA1_HUMAN	Homo sapiens neuro-oncological ventral antigen 1 (NOVA1), transcript variant 1, mRNA.	130					RNA splicing|locomotory behavior|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		GTCTTGGCCACATTTTGGGGC	0.438000													13	48					0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207679361	207679361	+	Silent	SNP	C	C	T	rs142605009	by1000genomes	TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr1:207679361C>T	uc001hfy.3	+	1	374	c.234C>T	c.(232-234)tcC>tcT	p.S78S	CR1_uc009xcl.1_Silent_p.S78S|CR1_uc001hfx.3_Silent_p.S78S|CR1_uc021pij.1_Silent_p.S78S|CR1_uc010psg.1_Silent_p.S78S|CR1_uc009xcj.1_Silent_p.S78S|CR1_uc009xck.1_Silent_p.S78S	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	78	Sushi 1.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CTGGTTATTCCGGAAGACCGT	0.483000													15	132					0	0	1	0	0
SMARCA2	6595	broad.mit.edu	37	9	2039776	2039776	+	Silent	SNP	A	A	G	rs13296987	byFrequency	TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr9:2039776A>G	uc003zhc.3	+	3	765	c.666A>G	c.(664-666)caA>caG	p.Q222Q	SMARCA2_uc003zhd.3_Silent_p.Q222Q|SMARCA2_uc010mha.3_Silent_p.Q213Q	NM_003070	NP_003061	P51531	SMCA2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 (SMARCA2), transcript variant 1, mRNA.	222	Poly-Gln.				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	SWI/SNF complex|WINAC complex|intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm	ATP binding|DNA-dependent ATPase activity|RNA polymerase II transcription coactivator activity|helicase activity|protein binding|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		agcagcagcaacagcagcagc	0.637000													4	31					0	0	1	0	0
SYDE2	84144	broad.mit.edu	37	1	85656053	85656053	+	Silent	SNP	A	A	G			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr1:85656053A>G	uc009wcm.3	-	1	1177	c.1128T>C	c.(1126-1128)ccT>ccC	p.P376P	SYDE2_uc001dku.4_Silent_p.P376P	NM_032184	NP_115560	Q5VT97	SYDE2_HUMAN	Homo sapiens synapse defective 1, Rho GTPase, homolog 2 (C. elegans) (SYDE2), mRNA.	376					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		CATCATCCTCAGGAATGGGAT	0.418000													8	16					0	0	1	0	0
CHD4	1108	broad.mit.edu	37	12	6697558	6697558	+	Missense_Mutation	SNP	A	A	G			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr12:6697558A>G	uc001qpo.3	-	22	3535	c.3371T>C	c.(3370-3372)cTt>cCt	p.L1124P	CHD4_uc001qpn.3_Missense_Mutation_p.L1117P|CHD4_uc001qpp.3_Missense_Mutation_p.L1121P	NM_001273	NP_001264	Q14839	CHD4_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 4 (CHD4), mRNA.	1124	Helicase C-terminal.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						TCGAGTGGAAAGCAAGAAGCA	0.428000													17	54					0	0	1	0	0
MALAT1	378938	broad.mit.edu	37	11	65270254	65270254	+	RNA	SNP	G	G	A			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr11:65270254G>A	uc001odz.3	+	1		c.454G>A			MALAT1_uc010roh.2_Non-coding_Transcript|AF113016_uc001ody.3_Non-coding_Transcript					Homo sapiens cDNA clone IMAGE:4291796, **** WARNING: chimeric clone ****.																		GCATAACCCTGAGATTCTTAC	0.348000													6	11					0	0	1	0	0
EPHA5	2044	broad.mit.edu	37	4	66356251	66356251	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr4:66356251G>A	uc003hcy.3	-	4	1439	c.1246C>T	c.(1246-1248)Ccc>Tcc	p.P416S	EPHA5_uc003hcx.3_Missense_Mutation_p.P347S|EPHA5_uc003hcz.3_Missense_Mutation_p.P416S|EPHA5_uc011cah.2_Missense_Mutation_p.P416S|EPHA5_uc011cai.2_Missense_Mutation_p.P416S|EPHA5_uc003hda.2_Missense_Mutation_p.P416S	NM_004439	NP_004430	P54756	EPHA5_HUMAN	Homo sapiens EPH receptor A5 (EPHA5), transcript variant 1, mRNA.	416	Fibronectin type-III 1.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CTTTGCCGGGGAAGGTACCTG	0.498000										TSP Lung(17;0.13)			10	42					0	0	1	0	0
SMEK2	57223	broad.mit.edu	37	2	55792098	55792098	+	Missense_Mutation	SNP	A	A	T			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr2:55792098A>T	uc002rzc.3	-	13	2707	c.2015T>A	c.(2014-2016)tTc>tAc	p.F672Y	SMEK2_uc002rzb.3_Missense_Mutation_p.F587Y|SMEK2_uc002rzd.3_Missense_Mutation_p.F640Y|SMEK2_uc002ryz.3_Missense_Mutation_p.F106Y|SMEK2_uc002rza.3_Missense_Mutation_p.F463Y	NM_001122964	NP_001116436	Q5MIZ7	P4R3B_HUMAN	Homo sapiens SMEK homolog 2, suppressor of mek1 (Dictyostelium) (SMEK2), transcript variant 1, mRNA.	672						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)			CAATCCTTTGAATGTCTGAAC	0.313000													6	15					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38976497	38976497	+	Silent	SNP	C	C	T			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr19:38976497C>T	uc002oit.3	+	33	5332	c.5202C>T	c.(5200-5202)atC>atT	p.I1734I	RYR1_uc002oiu.3_Silent_p.I1734I	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	1734	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CTGAATACATCGTGCCCCTCA	0.632000													48	56					0	0	1	0	0
BC018860	0	broad.mit.edu	37	MT	7273	7273	+	Silent	SNP	G	G	A			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chrM:7273G>A	uc011mfh.2	+	0	1373	c.372G>A	c.(370-372)agG>agA	p.R124R	JA429830_uc022bqp.1_5'Flank|JA429831_uc022bqq.1_5'Flank|JA429505_uc022bqr.1_5'Flank|OK/SW-cl.16_uc011mfi.2_5'Flank|AD_1_uc022bqu.1_5'Flank					Homo sapiens cDNA: FLJ22894 fis, clone KAT04907.																		ATCATCTGTAGGCTCATTCAT	0.428000													36	209					0	0	1	0	0
SYCP2	10388	broad.mit.edu	37	20	58448922	58448922	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr20:58448922G>A	uc002yaz.3	-	33	3683	c.3544C>T	c.(3544-3546)Cca>Tca	p.P1182S		NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	Homo sapiens synaptonemal complex protein 2 (SYCP2), mRNA.	1182					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			AAAAACAGTGGTCGTGGAATT	0.338000													9	27					0	0	1	0	0
FAM153A	285596	broad.mit.edu	37	5	177156485	177156485	+	Splice_Site	SNP	C	C	G			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr5:177156485C>G	uc010jkp.1	-	18	1123	c.702_splice	c.e18+1	p.M234_splice	FAM153A_uc021yix.1_Intron|FAM153A_uc003mib.1_Splice_Site|FAM153A_uc003mic.3_Splice_Site_p.M234_splice	NM_173663	NP_775934	Q9UHL3	F153A_HUMAN	Homo sapiens family with sequence similarity 153, member A (FAM153A), mRNA.	234										kidney(6)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|stomach(1)	11	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GACGACTTTACCATGTGAACC	0.443000													29	124					0	0	1	0	0
CBX5	23468	broad.mit.edu	37	12	54645939	54645939	+	Nonsense_Mutation	SNP	A	A	T			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr12:54645939A>T	uc001sfh.4	-	2	528	c.210T>A	c.(208-210)taT>taA	p.Y70*	CBX5_uc001sfk.4_Nonsense_Mutation_p.Y70*|CBX5_uc001sfj.4_Nonsense_Mutation_p.Y70*	NM_001127322	NP_036249	P45973	CBX5_HUMAN	Homo sapiens chromobox homolog 5 (CBX5), transcript variant 1, mRNA.	70	Chromo 1.				blood coagulation|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|nuclear centromeric heterochromatin|nuclear envelope|nucleolus|transcriptional repressor complex	methylated histone residue binding|protein binding, bridging|repressing transcription factor binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	8						TCATCTTCTTATACTTTTTCA	0.363000													14	59					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr20:29628243T>C	uc010ztl.1	+	2	187	c.155T>C	c.(154-156)tTg>tCg	p.L52S	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Missense_Mutation_p.L4S					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363000													5	111					0	0	1	0	0
BAGE1	0	broad.mit.edu	37	GL000237.1	678	678	+	RNA	SNP	A	A	G			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chrGL000237.1:678A>G	uc011mgu.1	-	1		c.540T>C								Homo sapiens B melanoma antigen variant f (BAGE1) mRNA, complete cds, alternatively spliced.																		ACCCCAGGCCAGGCCGGGCCC	0.627000													9	12					0	0	1	0	0
KDM4B	23030	broad.mit.edu	37	19	5137981	5137981	+	Missense_Mutation	SNP	A	A	C			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr19:5137981A>C	uc010xim.2	+	17	2660	c.2552A>C	c.(2551-2553)cAc>cCc	p.H851P	KDM4B_uc002mbq.4_Missense_Mutation_p.H817P|KDM4B_uc002mbr.4_Missense_Mutation_p.H575P	NM_015015	NP_055830	O94953	KDM4B_HUMAN	Homo sapiens lysine (K)-specific demethylase 4B (KDM4B), mRNA.	817					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						AGGTGGATCCACGTGATCTGT	0.672000													5	13					0	0	1	0	0
OR4C3	256144	broad.mit.edu	37	11	48347283	48347283	+	Missense_Mutation	SNP	C	C	G			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr11:48347283C>G	uc010rhv.2	+	0	791	c.791C>G	c.(790-792)aCc>aGc	p.T264S		NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 3 (OR4C3), mRNA.	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						GCCCTCTCCACCTGTGGAGCC	0.458000													46	39					0	0	1	0	0
BC107568	0	broad.mit.edu	37	GL000195.1	138118	138118	+	RNA	SNP	G	G	A			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chrGL000195.1:138118G>A	uc003won.1	+	0		c.152G>A								Homo sapiens cDNA clone IMAGE:3683736.																		AAGGTGCCAGGACATCCTGGA	0.602000													3	7					0	0	1	0	0
PRPF8	10594	broad.mit.edu	37	17	1563260	1563260	+	Silent	SNP	C	C	T			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr17:1563260C>T	uc002fte.3	-	30	4935	c.4821G>A	c.(4819-4821)gaG>gaA	p.E1607E		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	Homo sapiens PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) (PRPF8), mRNA.	1607						U5 snRNP|catalytic step 2 spliceosome|nuclear speck	RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TTTGTACTGTCTCAATTTCCA	0.413000													10	106					0	0	1	0	0
CD1B	910	broad.mit.edu	37	1	158298715	158298715	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr1:158298715G>A	uc001frx.3	-	4	1084	c.976C>T	c.(976-978)Cgc>Tgc	p.R326C	CD1B_uc001frw.3_Missense_Mutation_p.R271C	NM_001764	NP_001755	P29016	CD1B_HUMAN	Homo sapiens CD1b molecule (CD1B), mRNA.	326					antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding	p.R325R(1)		breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					ACTCACCGGCGCCTCATATAC	0.378000													13	40					0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27801239	27801239	+	Silent	SNP	C	C	T			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr2:27801239C>T	uc002rkz.4	+	0	1851	c.1800C>T	c.(1798-1800)atC>atT	p.I600I		NM_032266	NP_115642	Q68DN1	CB016_HUMAN	Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA.	600										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CCCTTCAAATCGTAAAATCTG	0.393000													12	17					0	0	1	0	0
ZNF667	63934	broad.mit.edu	37	19	56953959	56953959	+	Missense_Mutation	SNP	C	C	G			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr19:56953959C>G	uc002qne.3	-	6	1196	c.405G>C	c.(403-405)aaG>aaC	p.K135N	ZNF667_uc010etl.3_5'UTR|ZNF667_uc002qnd.3_Missense_Mutation_p.K135N|ZNF667_uc010etm.3_Missense_Mutation_p.K78N	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN	Homo sapiens zinc finger protein 667 (ZNF667), transcript variant 1, mRNA.	135					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		AATGCCCTTTCTTAGGTTTTA	0.393000													47	50					0	0	1	0	0
FBXW7	55294	broad.mit.edu	37	4	153249385	153249385	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr4:153249385G>A	uc003ims.3	-	8	1555	c.1393C>T	c.(1393-1395)Cgt>Tgt	p.R465C	FBXW7_uc011cii.2_Missense_Mutation_p.R465C|FBXW7_uc003imt.3_Missense_Mutation_p.R465C|FBXW7_uc011cih.2_Missense_Mutation_p.R289C|FBXW7_uc003imq.3_Missense_Mutation_p.R385C|FBXW7_uc003imr.3_Missense_Mutation_p.R347C	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	Homo sapiens F-box and WD repeat domain containing 7 (FBXW7), transcript variant 1, mRNA.	465			R -> C (in a acute lymphoblastic leukemia cell line).|R -> H (in a colorectal cancer sample; somatic mutation).		SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of Notch signaling pathway|negative regulation of hepatocyte proliferation|negative regulation of triglyceride biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of epidermal growth factor receptor activity|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|sister chromatid cohesion|vasculature development	SCF ubiquitin ligase complex|nucleolus|nucleoplasm	protein binding	p.R465C(140)|p.R465H(56)|p.R226C(11)|p.R385C(11)|p.R465L(4)|p.R465Y(4)|p.R347C(3)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGCATACAACGCACAGTGGAA	0.413000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								55	71					0	0	1	0	0
CHD4	1108	broad.mit.edu	37	12	6710697	6710697	+	Splice_Site	SNP	C	C	T			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr12:6710697C>T	uc001qpo.3	-	6	722	c.558_splice	c.e6-1	p.R186_splice	CHD4_uc001qpn.3_Splice_Site_p.R179_splice|CHD4_uc001qpp.3_Splice_Site_p.R183_splice	NM_001273	NP_001264	Q14839	CHD4_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 4 (CHD4), mRNA.	186					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						AATGAGGGGTCTGGTGGAGAA	0.438000													130	126					0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73613273	73613273	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr2:73613273delC	uc002sje.1	+	0	388	c.277delC	c.(277-279)cccfs	p.P93fs	ALMS1_uc002sjf.1_Frame_Shift_Del_p.P93fs	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	93					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TCCGCTGTCGCCCCCGCAGCA	0.701													2	4	---	---	---	---					
PIK3R1	5295	broad.mit.edu	37	5	67589269	67589270	+	Frame_Shift_Ins	INS	-	-	T			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr5:67589269_67589270insT	uc003jva.3	+	9	1837_1838	c.1257_1258insT	c.(1255-1260)aaattgfs	p.K419fs	PIK3R1_uc003jvc.3_Frame_Shift_Ins_p.K119fs|PIK3R1_uc003jvd.3_Frame_Shift_Ins_p.K149fs|PIK3R1_uc003jve.3_Frame_Shift_Ins_p.K98fs|PIK3R1_uc021xzn.1_Frame_Shift_Ins_p.K56fs|PIK3R1_uc011crb.2_Frame_Shift_Ins_p.K89fs	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	419	SH2 1.				T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	ATAATCCCAAATTGGATGTGAA	0.347			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)			12	14	---	---	---	---					
PIK3R1	5295	broad.mit.edu	37	5	67589588	67589620	+	In_Frame_Del	DEL	GAATATAACACTCAGTTTCAAGAAAAAAGTCGA	GAATATAACACTCAGTTTCAAGAAAAAAGTCGA	-	rs17852841		TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr5:67589588_67589620delGAATATAACACTCAGTTTCAAGAAAAAAGTCGA	uc003jva.3	+	10	1931_1963	c.1351_1383delGAATATAACACTCAGTTTCAAGAAAAAAGTCGA	c.(1351-1383)gaatataacactcagtttcaagaaaaaagtcgadel	p.EYNTQFQEKSR451del	PIK3R1_uc003jvc.3_In_Frame_Del_p.EYNTQFQEKSR151del|PIK3R1_uc003jvd.3_In_Frame_Del_p.EYNTQFQEKSR181del|PIK3R1_uc003jve.3_In_Frame_Del_p.EYNTQFQEKSR130del|PIK3R1_uc021xzn.1_In_Frame_Del_p.EYNTQFQEKSR88del|PIK3R1_uc011crb.2_In_Frame_Del_p.EYNTQFQEKSR121del	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	451			E -> K (in dbSNP:rs17852841).		T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.N453_T454insN(6)|p.H450_E451del(4)|p.Y452_Q455>SGGSRIK(2)|p.F456_R461>S(2)|p.E451_Y452delEY(2)|p.T454_Q455>Q(2)|p.T454I(2)|p.Y452N(2)|p.R461*(2)|p.453_454insN(2)|p.K459del(2)|p.K459_S460>N(2)|p.Q457P(2)|p.Q457_R461del(2)|p.S460fs*5(2)|p.T454_D464del(2)|p.G446_Y452>VI(2)|p.E458*(2)|p.K459E(2)|p.Q455K(2)|p.F456_R461del(2)|p.E451_Y452del(2)|p.D434_Q475del(2)|p.Y152N(1)|p.E462_R465delEYDR(1)|p.Q187P(1)|p.Q157P(1)|p.?(1)|p.0?(1)|p.Y182N(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	AAAATTACATGAATATAACACTCAGTTTCAAGAAAAAAGTCGAGAATATGATA	0.270			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)			7	32	---	---	---	---					
MSH3	4437	broad.mit.edu	37	5	79950742	79950750	+	In_Frame_Del	DEL	CCCCCAGCT	CCCCCAGCT	-	rs3045983		TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr5:79950742_79950750delCCCCCAGCT	uc003kgz.3	+	0	449_457	c.196_204delCCCCCAGCT	c.(196-204)cccccagctdel	p.PPA66del	DHFR_uc003kgy.1_5'UTR|DHFR_uc011ctl.2_In_Frame_Del_p.11_14GAGG>G|DHFR_uc011ctm.2_Non-coding_Transcript|DHFR_uc010jap.2_Non-coding_Transcript	NM_002439	NP_002430	P20585	MSH3_HUMAN	Homo sapiens mutS homolog 3 (E. coli) (MSH3), mRNA.	66					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|Y-form DNA binding|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		gCCCCCAGCGCCCCCAGCTCCCGCCTTCC	0.732								Mismatch excision repair (MMR)					7	10	---	---	---	---					
MCC	4163	broad.mit.edu	37	5	112824048	112824049	+	In_Frame_Ins	INS	-	-	GCC	rs35336557		TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr5:112824048_112824049insGCC	uc003kql.4	-	0	479_480	c.63_64insGGC	c.(61-66)insGGC	p.21_22insG		NM_001085377	NP_001078846	P23508	CRCM_HUMAN	Homo sapiens mutated in colorectal cancers (MCC), transcript variant 1, mRNA.	549					Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	p.S22*(1)		endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		ctgctgccgctgccgccgccgc	0.738													8	18	---	---	---	---					
FXR2	9513	broad.mit.edu	37	17	7495872	7495874	+	In_Frame_Del	DEL	CGG	CGG	-			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr17:7495872_7495874delCGG	uc002gia.2	-	14	2138_2140	c.1773_1775delCCG	c.(1771-1776)cgccgt>cgt	p.591_592RR>R	MPDU1_uc010vuc.1_3'UTR|SOX15_uc002ghy.1_5'Flank|SOX15_uc002ghz.1_5'Flank	NM_004860	NP_004851	P51116	FXR2_HUMAN	Homo sapiens fragile X mental retardation, autosomal homolog 2 (FXR2), mRNA.	591	Poly-Arg.		R -> P (in dbSNP:rs36013555).			cytosolic large ribosomal subunit	RNA binding|protein binding	p.R590S(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		ACCACGGTTACGGCGGCGGCGGC	0.547													10	527	---	---	---	---					
