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
PCDH11X	27328	broad.mit.edu	37	X	91134233	91134233	+	Silent	SNP	G	G	A			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chrX:91134233G>A	ENST00000373094.1	+	2	3839	c.2994G>A	c.(2992-2994)gtG>gtA	p.V998V	PCDH11X_ENST00000373088.1_Silent_p.V998V|PCDH11X_ENST00000373097.1_Silent_p.V998V|PCDH11X_ENST00000395337.2_Silent_p.V998V|PCDH11X_ENST00000361655.2_Silent_p.V998V|PCDH11X_ENST00000361724.1_Silent_p.V998V|PCDH11X_ENST00000406881.1_Silent_p.V998V|PCDH11X_ENST00000298274.8_Silent_p.V998V|PCDH11X_ENST00000504220.1_Silent_p.V998V	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	998					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GCTATCCAGTGACGACCTTCG	0.438000													17	77					0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14401070	14401070	+	Splice_Site	SNP	A	A	G			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr5:14401070A>G	ENST00000344204.4	+	31	4638		c.e31-1		TRIO_ENST00000537187.1_Splice_Site	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor						apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CTTTTTATCCAGACCTCAGAG	0.403000													9	20					0	0	1	0	0
PGC	5225	broad.mit.edu	37	6	41708282	41708282	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr6:41708282C>G	ENST00000373025.3	-	6	776	c.714G>C	c.(712-714)caG>caC	p.Q238H		NM_002630.3	NP_002621.1	P20142	PEPC_HUMAN	progastricsin (pepsinogen C)	238					digestion|proteolysis	extracellular space	aspartic-type endopeptidase activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			CCCAGTAGATCTGCCCCGTGT	0.617000													6	108					0	0	1	0	0
RABGGTA	5875	broad.mit.edu	37	14	24736895	24736895	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr14:24736895C>T	ENST00000399409.3	-	13	1807	c.1324G>A	c.(1324-1326)Gag>Aag	p.E442K	RABGGTA_ENST00000216840.6_Missense_Mutation_p.E442K|RABGGTA_ENST00000560777.1_Missense_Mutation_p.E51K	NM_004581.5	NP_004572.3	Q92696	PGTA_HUMAN	Rab geranylgeranyltransferase, alpha subunit	442					visual perception		Rab geranylgeranyltransferase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12				GBM - Glioblastoma multiforme(265;0.0184)		ACACGCACCTCGGCATACTCC	0.617000													6	18					0	0	1	0	0
MT1E	4493	broad.mit.edu	37	16	56660685	56660685	+	Silent	SNP	A	A	G	rs117777471	by1000genomes	TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr16:56660685A>G	ENST00000330439.6	+	2	390	c.336A>G	c.(334-336)aaA>aaG	p.K112K	MT1E_ENST00000306061.6_Intron|MT1E_ENST00000568293.1_Intron			P04732	MT1E_HUMAN	metallothionein 1E	0						cytoplasm	cadmium ion binding|copper ion binding|zinc ion binding										AGACGAAAAAAAGCATCCTCT	0.542000													3	25					0	0	1	0	0
CRH	1392	broad.mit.edu	37	8	67089181	67089181	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr8:67089181C>T	ENST00000276571.3	-	2	978	c.532G>A	c.(532-534)Gag>Aag	p.E178K		NM_000756.2	NP_000747.1	P06850	CRF_HUMAN	corticotropin releasing hormone	178					female pregnancy|negative regulation of circadian sleep/wake cycle, REM sleep|parturition|positive regulation of circadian sleep/wake cycle, wakefulness|positive regulation of cortisol secretion|signal transduction|synaptic transmission	extracellular region|soluble fraction	neuropeptide hormone activity			breast(1)|endometrium(1)|lung(2)|urinary_tract(1)	5		all_cancers(86;2.58e-06)|all_epithelial(80;6.27e-09)|all_lung(136;0.000414)|Lung NSC(129;0.0011)	Epithelial(68;0.0136)|all cancers(69;0.0507)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)		Corticotropin(DB01285)	GCTAACTGCTCGGCCCTGGCC	0.532000											OREG0018805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	48					0	0	1	0	0
KIAA1644	85352	broad.mit.edu	37	22	44692710	44692710	+	Silent	SNP	G	G	A			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr22:44692710G>A	ENST00000381176.4	-	3	255	c.123C>T	c.(121-123)taC>taT	p.Y41Y		NM_001099294.1	NP_001092764.1	Q3SXP7	K1644_HUMAN	KIAA1644	41						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)				AGCCAAAGTGGTAGCGGCCTT	0.547000													10	170					0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	161020532	161020532	+	Splice_Site	SNP	G	G	A			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr6:161020532G>A	ENST00000447678.1	-	21	3407	c.3287_splice	c.e21+1	p.A1096_splice	LPA_ENST00000316300.5_Splice_Site_p.A1096_splice	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3604	Kringle 10.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	AAAGACGTACGCATTTGGGTA	0.488000													20	246					0	0	1	0	0
NBAS	51594	broad.mit.edu	37	2	15372601	15372601	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr2:15372601G>T	ENST00000281513.5	-	47	6206	c.6181C>A	c.(6181-6183)Cca>Aca	p.P2061T	NBAS_ENST00000441750.1_Missense_Mutation_p.P1941T	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	2061										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						ACCTTCAGTGGGTCCCTTGGC	0.473000													6	31					5.18039e-06	5.56892e-06	1	1	0
CNTN2	6900	broad.mit.edu	37	1	205042245	205042245	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr1:205042245G>A	ENST00000331830.4	+	22	3178	c.2894G>A	c.(2893-2895)gGc>gAc	p.G965D		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	965	Fibronectin type-III 4.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CACCTCACCGGCAAGAACTGG	0.562000													3	34					0	0	1	0	0
NELL2	4753	broad.mit.edu	37	12	44917200	44917200	+	Silent	SNP	G	G	A			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr12:44917200G>A	ENST00000429094.2	-	17	2376	c.1872C>T	c.(1870-1872)ggC>ggT	p.G624G	NELL2_ENST00000549027.1_Silent_p.G623G|NELL2_ENST00000437801.2_Silent_p.G674G|NELL2_ENST00000551601.1_Silent_p.G576G|NELL2_ENST00000395487.2_Silent_p.G623G|NELL2_ENST00000333837.4_Silent_p.G647G|NELL2_ENST00000452445.2_Silent_p.G624G	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	624	EGF-like 6; calcium-binding (Potential).				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		AATCATATCCGCCATCCAAAT	0.443000													9	71					0	0	1	0	0
OR5T3	390154	broad.mit.edu	37	11	56020573	56020573	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr11:56020573C>A	ENST00000303059.3	+	1	898	c.898C>A	c.(898-900)Cat>Aat	p.H300N		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	300					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					TGCTTCAGACCATGACATCAT	0.388000													6	89					0.00116845	0.00122544	1	1	0
WHAMMP3	339005	broad.mit.edu	37	15	23191911	23191911	+	RNA	SNP	C	C	T	rs147199465	by1000genomes	TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr15:23191911C>T	ENST00000400153.2	-	0	1785					NR_003521.1																						TGATTTTCTTCGCACTGATCC	0.408000													3	16					0	0	1	0	0
OR13F1	138805	broad.mit.edu	37	9	107266698	107266698	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr9:107266698A>G	ENST00000334726.2	+	1	244	c.155A>G	c.(154-156)gAt>gGt	p.D52G		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						ACCATTCTAGATTCCCACCTG	0.483000													12	104					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11098863	11098863	+	RNA	SNP	A	A	G	rs75318310	by1000genomes	TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr21:11098863A>G	ENST00000470054.1	-	0	62									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ccagcctccaactcccccttc	0.627000													3	24					0	0	1	0	0
CPNE3	8895	broad.mit.edu	37	8	87544758	87544758	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr8:87544758G>T	ENST00000521271.1	+	6	571	c.409G>T	c.(409-411)Gat>Tat	p.D137Y	CPNE3_ENST00000198765.4_Missense_Mutation_p.D137Y	NM_003909.3	NP_003900.1	O75131	CPNE3_HUMAN	copine III	137	C2 2.				lipid metabolic process|vesicle-mediated transport	cytosol	calcium-dependent phospholipid binding|protein serine/threonine kinase activity|transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						AGAAATAAAAGATAATAGAGT	0.328000													8	142					0.00307968	0.003153	1	1	0
GIGYF1	64599	broad.mit.edu	37	7	100284282	100284282	+	Silent	SNP	G	G	A			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr7:100284282G>A	ENST00000275732.5	-	7	1893	c.684C>T	c.(682-684)tcC>tcT	p.S228S	GIGYF1_ENST00000471340.2_Intron	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	228										central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CAGGGCTGGCGGAGCGCCAGC	0.697000													18	43					0	0	1	0	0
RCOR2	283248	broad.mit.edu	37	11	63679869	63679869	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr11:63679869C>T	ENST00000301459.4	-	11	1552	c.1165G>A	c.(1165-1167)Gag>Aag	p.E389K		NM_173587.3	NP_775858.2	Q8IZ40	RCOR2_HUMAN	REST corepressor 2	389					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	17						CCATCCTGCTCAGCCTCCCAT	0.597000													16	105					0	0	1	0	0
KCNA4	3739	broad.mit.edu	37	11	30032996	30032996	+	Silent	SNP	G	G	C			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr11:30032996G>C	ENST00000328224.6	-	2	2463	c.1230C>G	c.(1228-1230)gtC>gtG	p.V410V		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	410						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						GCAAAATGGAGACAATGTCAA	0.488000													5	65					0	0	1	0	0
ENAM	10117	broad.mit.edu	37	4	71508562	71508562	+	Silent	SNP	G	G	A			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr4:71508562G>A	ENST00000396073.3	+	9	1700	c.1419G>A	c.(1417-1419)ctG>ctA	p.L473L	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	473					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			ATTATAAACTGCCTCACTCTG	0.378000													8	13					0	0	1	0	0
POLM	27434	broad.mit.edu	37	7	44119175	44119175	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr7:44119175C>T	ENST00000242248.5	-	4	738	c.637G>A	c.(637-639)Gtc>Atc	p.V213I	POLM_ENST00000335195.6_Missense_Mutation_p.V213I|POLM_ENST00000395831.3_Missense_Mutation_p.V213I	NM_013284.2	NP_037416.1	Q9NP87	DPOLM_HUMAN	polymerase (DNA directed), mu	213					DNA recombination|DNA repair	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						CCTACCTGGACAACCCTAGAG	0.637000								DNA polymerases (catalytic subunits)					5	46					0	0	1	0	0
ITPK1	3705	broad.mit.edu	37	14	93483111	93483111	+	Silent	SNP	G	G	A			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr14:93483111G>A	ENST00000267615.6	-	4	329	c.156C>T	c.(154-156)ccC>ccT	p.P52P	ITPK1_ENST00000555495.1_5'UTR|ITPK1_ENST00000556603.2_Silent_p.P52P|ITPK1_ENST00000354313.3_Silent_p.P52P|ITPK1_ENST00000556954.1_5'UTR			Q13572	ITPK1_HUMAN	inositol-tetrakisphosphate 1-kinase	52					blood coagulation|inositol trisphosphate metabolic process|signal transduction	cytosol	ATP binding|hydrolase activity|inositol tetrakisphosphate 1-kinase activity|inositol-1,3,4-trisphosphate 5/6-kinase activity|isomerase activity|ligase activity|magnesium ion binding			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11		all_cancers(154;0.077)|all_epithelial(191;0.247)		Epithelial(152;0.124)|all cancers(159;0.169)		TGACGTCCAGGGGGCCCTGCT	0.582000													10	54					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103348754	103348754	+	Splice_Site	SNP	C	C	G			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr1:103348754C>G	ENST00000358392.2	-	64	5325		c.e64+1		COL11A1_ENST00000512756.1_Splice_Site|COL11A1_ENST00000353414.4_Splice_Site|COL11A1_ENST00000370096.3_Splice_Site	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1						collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTGGTACTTACTCCCTCAGAT	0.363000													7	61					0	0	1	0	0
N4BP2	55728	broad.mit.edu	37	4	40122006	40122006	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr4:40122006A>G	ENST00000261435.6	+	9	2691	c.2275A>G	c.(2275-2277)Aga>Gga	p.R759G		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	759						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						AGTGGAAGAAAGAGCAACAGT	0.378000													23	69					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9858783	9858783	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr16:9858783C>T	ENST00000396573.2	-	14	2927	c.2618G>A	c.(2617-2619)gGa>gAa	p.G873E	GRIN2A_ENST00000330684.3_Missense_Mutation_p.G873E|GRIN2A_ENST00000404927.2_Missense_Mutation_p.G873E|GRIN2A_ENST00000535259.1_Missense_Mutation_p.G716E|GRIN2A_ENST00000562109.1_Missense_Mutation_p.G873E|GRIN2A_ENST00000396575.2_Missense_Mutation_p.G873E	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	873					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AATGTGCACTCCATGAATGCA	0.468000													6	72					0	0	1	0	0
AMIGO2	347902	broad.mit.edu	37	12	47472100	47472100	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr12:47472100G>A	ENST00000266581.4	-	2	1152	c.686C>T	c.(685-687)cCa>cTa	p.P229L	AMIGO2_ENST00000429635.1_Missense_Mutation_p.P229L|AMIGO2_ENST00000321382.3_Missense_Mutation_p.P229L|AMIGO2_ENST00000550413.1_Missense_Mutation_p.P229L	NM_181847.4	NP_862830.1	Q86SJ2	AMGO2_HUMAN	adhesion molecule with Ig-like domain 2	229	LRRCT.				heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					ACAGACAAATGGGTTTCCATG	0.428000													10	34					0	0	1	0	0
KIF26B	55083	broad.mit.edu	37	1	245850065	245850065	+	Silent	SNP	G	G	A			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr1:245850065G>A	ENST00000366518.4	+	9	2741	c.2637G>A	c.(2635-2637)ccG>ccA	p.P879P	KIF26B_ENST00000407071.2_Silent_p.P1260P			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1260					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			TGCCCCTCCCGAAGATGAGCC	0.632000													3	19					0	0	1	0	0
ANKAR	150709	broad.mit.edu	37	2	190584435	190584435	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr2:190584435C>G	ENST00000520309.1	+	11	2450	c.2362C>G	c.(2362-2364)Cta>Gta	p.L788V	ANKAR_ENST00000438402.2_Missense_Mutation_p.L788V|ANKAR_ENST00000431575.2_Missense_Mutation_p.L717V|ANKAR_ENST00000313581.4_Missense_Mutation_p.L788V|ANKAR_ENST00000281412.6_Missense_Mutation_p.L552V	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	788						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			CATTCCATCTCTAATCAACCT	0.408000													4	29					0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	70935688	70935688	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr6:70935688C>T	ENST00000357250.6	-	37	2686	c.2528G>A	c.(2527-2529)cGt>cAt	p.R843H	COL9A1_ENST00000370499.4_Missense_Mutation_p.R600H|COL9A1_ENST00000320755.7_Missense_Mutation_p.R600H|RP1-149L1.1_ENST00000522264.1_RNA|COL9A1_ENST00000489611.1_5'UTR	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	843	Triple-helical region (COL1).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						TGGAGGGCCACGCTCCCCCTT	0.438000													9	38					0	0	1	0	0
PRR14	78994	broad.mit.edu	37	16	30666196	30666196	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr16:30666196C>T	ENST00000542965.2	+	7	1361	c.905C>T	c.(904-906)tCt>tTt	p.S302F	PRR14_ENST00000571654.1_3'UTR|PRR14_ENST00000300835.4_Missense_Mutation_p.S302F			Q9BWN1	PRR14_HUMAN	proline rich 14	302	Pro-rich.									breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			GGCACTGCGTCTGTCAGCCCC	0.642000													4	39					0	0	1	0	0
TTC17	55761	broad.mit.edu	37	11	43380578	43380578	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr11:43380578T>C	ENST00000039989.4	+	1	88	c.74T>C	c.(73-75)cTt>cCt	p.L25P	RP11-484D2.2_ENST00000526220.1_RNA|TTC17_ENST00000299240.6_Missense_Mutation_p.L25P	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	25							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						CTCCTCAGCCTTTCCGCCTTG	0.716000													4	16					0	0	1	0	0
TSLP	85480	broad.mit.edu	37	5	110409293	110409293	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr5:110409293A>G	ENST00000420978.2	+	4	1723	c.301A>G	c.(301-303)Aaa>Gaa	p.K101E	TSLP_ENST00000344895.3_Missense_Mutation_p.K101E|TSLP_ENST00000379706.4_Missense_Mutation_p.K5E			Q969D9	TSLP_HUMAN	thymic stromal lymphopoietin	101						extracellular space	cytokine activity			breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11		all_cancers(142;2.72e-05)|all_epithelial(76;4.39e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0417)|Ovarian(225;0.0443)|Colorectal(57;0.0464)|all_lung(232;0.0507)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.24e-08)|Epithelial(69;1.54e-07)|all cancers(49;1.73e-05)|COAD - Colon adenocarcinoma(37;0.109)		GTTCGCCATGAAAACTAAGGC	0.537000													11	110					0	0	1	0	0
SH3KBP1	30011	broad.mit.edu	37	X	19587305	19587305	+	Splice_Site	SNP	C	C	T			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chrX:19587305C>T	ENST00000397821.3	-	13	1590	c.1298_splice	c.e13-1	p.G434_splice	SH3KBP1_ENST00000541422.1_Splice_Site_p.G173_splice|SH3KBP1_ENST00000379698.4_Splice_Site_p.G397_splice|SH3KBP1_ENST00000379716.1_Splice_Site_p.G196_splice	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	434					apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						GGACTGTCACCCCTACATTAA	0.473000													6	37					0	0	1	0	0
SF3A3	10946	broad.mit.edu	37	1	38455601	38455601	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr1:38455601C>A	ENST00000373019.4	-	1	992	c.37G>T	c.(37-39)Gag>Tag	p.E13*	SF3A3_ENST00000448721.2_Nonsense_Mutation_p.E13*	NM_006802.2	NP_006793.1	Q12874	SF3A3_HUMAN	splicing factor 3a, subunit 3, 60kDa	13					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nuclear speck	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|prostate(2)	12	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TCCTTCTCCTCATGATAGCGC	0.592000											OREG0013386	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	86					0.000602214	0.000639388	1	1	0
RPL5	6125	broad.mit.edu	37	1	93301776	93301776	+	Silent	SNP	C	C	T			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr1:93301776C>T	ENST00000370321.3	+	5	444	c.354C>T	c.(352-354)atC>atT	p.I118I		NM_000969.3	NP_000960.2	P46777	RL5_HUMAN	ribosomal protein L5	118					endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		TGGACAAGATCTATGAAGGCC	0.413000													6	104					0	0	1	0	0
ZNF91	7644	broad.mit.edu	37	19	23543067	23543067	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr19:23543067G>C	ENST00000300619.7	-	4	2919	c.2714C>G	c.(2713-2715)aCc>aGc	p.T905S	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.T873S	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	905						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TTTCTCTCTGGTATGAATTCT	0.393000													4	30					0	0	1	0	0
ABCA2	20	broad.mit.edu	37	9	139910307	139910307	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr9:139910307C>G	ENST00000265662.5	-	23	3481	c.3334G>C	c.(3334-3336)Gag>Cag	p.E1112Q	ABCA2_ENST00000341511.6_Missense_Mutation_p.E1112Q|ABCA2_ENST00000371605.3_Missense_Mutation_p.E1111Q			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1111	ABC transporter 1.				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)		TTGGAGAGCTCCAGGTCCTCG	0.682000													4	61					0	0	1	0	0
PHF20L1	51105	broad.mit.edu	37	8	133829644	133829644	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr8:133829644G>C	ENST00000395386.2	+	12	1732	c.1433G>C	c.(1432-1434)aGt>aCt	p.S478T	PHF20L1_ENST00000395390.2_Missense_Mutation_p.S453T|PHF20L1_ENST00000220847.7_5'UTR|PHF20L1_ENST00000395382.3_Missense_Mutation_p.S348T|PHF20L1_ENST00000395383.1_Missense_Mutation_p.S482T|PHF20L1_ENST00000315808.10_Missense_Mutation_p.S478T	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	478							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			CTTGACTTAAGTCGTGGTTCA	0.438000													5	64					0	0	1	0	0
STXBP1	6812	broad.mit.edu	37	9	130432187	130432187	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr9:130432187C>T	ENST00000373302.3	+	11	1052	c.913C>T	c.(913-915)Cgg>Tgg	p.R305W	STXBP1_ENST00000373299.1_Missense_Mutation_p.R305W	NM_003165.3	NP_003156.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	305					axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						GGAAGTCACCCGGTCTCTGAA	0.438000													23	132					0	0	1	0	0
BOD1L1	259282	broad.mit.edu	37	4	13600870	13600870	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr4:13600870G>A	ENST00000040738.5	-	10	7789	c.7654C>T	c.(7654-7656)Ctt>Ttt	p.L2552F		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	2552							DNA binding										TCAGCAGGAAGAAAGGAATGC	0.473000											OREG0016115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	20					0	0	1	0	0
WNK3	65267	broad.mit.edu	37	X	54359869	54359869	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chrX:54359869T>C	ENST00000354646.2	-	2	676	c.238A>G	c.(238-240)Aga>Gga	p.R80G	WNK3_ENST00000375169.3_Missense_Mutation_p.R80G|WNK3_ENST00000375159.2_Missense_Mutation_p.R80G	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	80					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						GCCTTAATTCTCTCATCTTTG	0.398000													7	38					0	0	1	0	0
SLC30A2	7780	broad.mit.edu	37	1	26369045	26369045	+	Missense_Mutation	SNP	A	A	C			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr1:26369045A>C	ENST00000374278.3	-	4	796	c.580T>G	c.(580-582)Ttc>Gtc	p.F194V	SLC30A2_ENST00000374276.3_Missense_Mutation_p.F243V	NM_032513.3	NP_115902.1	Q9BRI3	ZNT2_HUMAN	solute carrier family 30 (zinc transporter), member 2	194					positive regulation of sequestering of zinc ion|zinc ion transport	integral to membrane|late endosome|lysosomal membrane	cation transmembrane transporter activity			cervix(1)|endometrium(2)|kidney(1)|lung(8)|stomach(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.09e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00614)|READ - Rectum adenocarcinoma(331;0.0649)		CTGACCTTGAAGTATAAAATA	0.547000													8	89					0	0	1	0	0
ZNF761	388561	broad.mit.edu	37	19	53958230	53958230	+	RNA	SNP	G	G	A			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr19:53958230G>A	ENST00000454407.1	+	0	922							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		ATTTCAGACCGAAGAGAAAAT	0.388000													7	87					0	0	1	0	0
CHRNA1	1134	broad.mit.edu	37	2	175614731	175614731	+	Silent	SNP	G	G	T			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr2:175614731G>T	ENST00000348749.5	-	7	1022	c.945C>A	c.(943-945)gtC>gtA	p.V315V	AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000409542.1_Silent_p.V233V|CHRNA1_ENST00000409219.1_Silent_p.V315V|CHRNA1_ENST00000261007.5_Silent_p.V340V	NM_000079.3	NP_000070.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	340					muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						GTGTGTTGATGACGATGACAG	0.557000													20	35					2.21704e-12	2.47617e-12	1	1	0
LAMA3	3909	broad.mit.edu	37	18	21511041	21511041	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr18:21511041G>A	ENST00000313654.9	+	65	8693	c.8452G>A	c.(8452-8454)Gtc>Atc	p.V2818I	LAMA3_ENST00000269217.6_Missense_Mutation_p.V1209I|LAMA3_ENST00000399516.3_Missense_Mutation_p.V2762I|LAMA3_ENST00000587184.1_Missense_Mutation_p.V1153I|LAMA3_ENST00000588770.1_3'UTR	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2818	Laminin G-like 3.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GAACCTGCAGGTCACTCTGGA	0.388000													33	66					0	0	1	0	0
DCLRE1C	64421	broad.mit.edu	37	10	14950607	14950607	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr10:14950607C>T	ENST00000453695.2	-	14	1963	c.1519G>A	c.(1519-1521)Gag>Aag	p.E507K	DCLRE1C_ENST00000357717.2_Missense_Mutation_p.E512K|DCLRE1C_ENST00000378249.1_Missense_Mutation_p.E512K|DCLRE1C_ENST00000378254.1_Missense_Mutation_p.E507K|DCLRE1C_ENST00000378255.1_Missense_Mutation_p.E507K|DCLRE1C_ENST00000396817.2_Missense_Mutation_p.E507K|DCLRE1C_ENST00000378242.1_Missense_Mutation_p.E280K|DCLRE1C_ENST00000378289.4_Intron|DCLRE1C_ENST00000378246.2_Missense_Mutation_p.E512K|DCLRE1C_ENST00000378258.1_Missense_Mutation_p.E507K|DCLRE1C_ENST00000378278.2_Missense_Mutation_p.E627K	NM_001033855.1	NP_001029027.1	Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	627					DNA recombination	nucleus	5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity	p.E627K(1)|p.E512K(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						ATATGTGTCTCACTGCTTAGA	0.388000								Non-homologous end-joining					14	64					0	0	1	0	0
CTNNA3	29119	broad.mit.edu	37	10	67862978	67862978	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr10:67862978G>T	ENST00000433211.1	-	14	2088	c.1914C>A	c.(1912-1914)gaC>gaA	p.D638E	CTNNA3_ENST00000373744.4_Missense_Mutation_p.D638E	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	638					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CCTCTTCAAGGTCAGAAACAT	0.458000													10	39					1.58986e-06	1.73074e-06	1	1	0
NLRP5	126206	broad.mit.edu	37	19	56538774	56538774	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr19:56538774G>A	ENST00000390649.3	+	7	1175	c.1175G>A	c.(1174-1176)cGc>cAc	p.R392H		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	392	NACHT.					mitochondrion|nucleolus	ATP binding	p.R392H(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		ACCCTCATACGCAGTCTGCTG	0.552000													5	18					0	0	1	0	0
UNC45B	146862	broad.mit.edu	37	17	33475352	33475352	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr17:33475352G>T	ENST00000268876.5	+	2	167	c.70G>T	c.(70-72)Gcc>Tcc	p.A24S	UNC45B_ENST00000378449.1_Missense_Mutation_p.A24S|UNC45B_ENST00000433649.1_Missense_Mutation_p.A24S|UNC45B_ENST00000394570.2_Missense_Mutation_p.A24S|UNC45B_ENST00000591048.1_Missense_Mutation_p.A24S	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	24					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				GGACTACAAGGCCGCCACAAA	0.587000													25	50					1.75199e-13	1.98251e-13	1	1	0
DRAP1	10589	broad.mit.edu	37	11	65687307	65687307	+	Silent	SNP	G	G	A			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr11:65687307G>A	ENST00000312515.2	+	2	344	c.99G>A	c.(97-99)gcG>gcA	p.A33A	DRAP1_ENST00000532933.1_Silent_p.A13A|DRAP1_ENST00000527119.1_Intron|DRAP1_ENST00000376991.2_Silent_p.A33A	NM_006442.3	NP_006433.2	Q14919	NC2A_HUMAN	DR1-associated protein 1 (negative cofactor 2 alpha)	33	Histone-fold.				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1)	5				READ - Rectum adenocarcinoma(159;0.166)		TGGCGGCGGCGGTGCCTGTCA	0.687000													4	52					0	0	1	0	0
CASZ1	54897	broad.mit.edu	37	1	10725221	10725221	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr1:10725221C>T	ENST00000377022.3	-	5	741	c.424G>A	c.(424-426)Gac>Aac	p.D142N	CASZ1_ENST00000344008.5_Missense_Mutation_p.D142N|CASZ1_ENST00000478728.2_5'UTR	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	142					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GCACCGCCGTCCTTGGAGGGC	0.687000													7	28					0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121612604	121612604	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr7:121612604A>G	ENST00000393386.2	+	4	725	c.314A>G	c.(313-315)aAt>aGt	p.N105S	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.N105S	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	105	Alpha-carbonic anhydrase.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						GTGGAAATTAATCTCACTAAT	0.318000													7	29					0	0	1	0	0
ZBTB49	166793	broad.mit.edu	37	4	4322518	4322518	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr4:4322518G>T	ENST00000337872.4	+	8	1894	c.1773G>T	c.(1771-1773)gaG>gaT	p.E591D	ZBTB49_ENST00000538529.1_Missense_Mutation_p.E74D|ZBTB49_ENST00000355834.3_Missense_Mutation_p.E469D	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	591					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						CTGGTGACGAGAGCCCAGATG	0.567000													6	35					0.0293803	0.029726	1	1	0
CCDC77	84318	broad.mit.edu	37	12	550057	550057	+	Silent	SNP	C	C	T			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr12:550057C>T	ENST00000239830.4	+	12	1394	c.1215C>T	c.(1213-1215)cgC>cgT	p.R405R	CCDC77_ENST00000412006.2_Silent_p.R373R|CCDC77_ENST00000422000.1_Silent_p.R373R|CCDC77_ENST00000540180.1_Silent_p.R373R	NM_032358.3	NP_115734.1	Q9BR77	CCD77_HUMAN	coiled-coil domain containing 77	405						centrosome				cervix(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033)			TGACAAAACGCTATGAGGCAT	0.448000													5	39					0	0	1	0	0
RNF113B	140432	broad.mit.edu	37	13	98828923	98828923	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr13:98828923C>T	ENST00000267291.6	-	1	596	c.568G>A	c.(568-570)Gat>Aat	p.D190N	FARP1_ENST00000376586.2_Intron|FARP1_ENST00000595437.1_Intron|FARP1_ENST00000319562.6_Intron|FARP1_ENST00000376581.5_Intron	NM_178861.4	NP_849192.1	Q8IZP6	R113B_HUMAN	ring finger protein 113B	190							nucleic acid binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			GGCTGGTAATCCCAGCGCACA	0.612000													12	51					0	0	1	0	0
LYPD6B	130576	broad.mit.edu	37	2	150061851	150061851	+	Silent	SNP	T	T	C			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr2:150061851T>C	ENST00000409642.3	+	4	563	c.162T>C	c.(160-162)gtT>gtC	p.V54V	LYPD6B_ENST00000498249.1_3'UTR|LYPD6B_ENST00000280115.7_Silent_p.V54V|LYPD6B_ENST00000409876.1_Silent_p.V30V|LYPD6B_ENST00000409029.1_Silent_p.V30V	NM_177964.3	NP_808879.2	Q8NI32	LPD6B_HUMAN	LY6/PLAUR domain containing 6B	30						anchored to membrane|plasma membrane				endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11						TCCAGATCGTTATCTTCTCAG	0.488000													20	140					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577025	7577025	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr17:7577025T>A	ENST00000420246.2	-	8	1045	c.913A>T	c.(913-915)Aag>Tag	p.K305*	TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.K305*|TP53_ENST00000359597.4_Nonsense_Mutation_p.K305*|TP53_ENST00000445888.2_Nonsense_Mutation_p.K305*|TP53_ENST00000269305.4_Nonsense_Mutation_p.K305*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	305	Interaction with CARM1.|Interaction with HIPK1 (By similarity).		K -> E (in a sporadic cancer; somatic mutation).|K -> M (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation; loss of nuclear localization).|K -> R (in sporadic cancers; somatic mutation).|K -> T (in a sporadic cancer; 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.K305*(19)|p.0?(8)|p.?(3)|p.L265_K305del41(1)|p.K305E(1)|p.K305fs*32(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)		TTACCTCGCTTAGTGCTCCCT	0.562000		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)			33	34					0	0	1	0	0
SEMA5B	54437	broad.mit.edu	37	3	122634290	122634290	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr3:122634290G>A	ENST00000195173.4	-	14	2288	c.1985C>T	c.(1984-1986)tCc>tTc	p.S662F	SEMA5B_ENST00000451055.2_Missense_Mutation_p.S716F|SEMA5B_ENST00000357599.3_Missense_Mutation_p.S662F			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	662					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		CACATACCTGGAGCAGTTGGC	0.602000													20	41					0	0	1	0	0
ZNF33A	7581	broad.mit.edu	37	10	38306271	38306271	+	Silent	SNP	G	G	A			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr10:38306271G>A	ENST00000374618.3	+	4	385	c.207G>A	c.(205-207)gaG>gaA	p.E69E	ZNF33A_ENST00000458705.2_Silent_p.E69E|ZNF33A_ENST00000476504.1_3'UTR|ZNF33A_ENST00000469037.2_Silent_p.E69E|ZNF33A_ENST00000307441.9_Silent_p.E69E|ZNF33A_ENST00000432900.2_Silent_p.E76E	NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2	NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1	Q06730	ZN33A_HUMAN	zinc finger protein 33A	69	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						AAGGAGAAGAGCCATGGAAAC	0.433000													5	66					0	0	1	0	0
ZNF417	147687	broad.mit.edu	37	19	58420104	58420104	+	Silent	SNP	A	A	G			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr19:58420104A>G	ENST00000312026.5	-	3	1706	c.1542T>C	c.(1540-1542)caT>caC	p.H514H	CTD-2583A14.9_ENST00000602124.1_Intron|ZNF417_ENST00000536263.1_Silent_p.H315H|ZNF417_ENST00000595559.1_Silent_p.H513H	NM_152475.2	NP_689688.2	Q8TAU3	ZN417_HUMAN	zinc finger protein 417	514					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)		TTTGTCCAGAATGAACTCTTT	0.408000													19	68					0	0	1	0	0
FBLN5	10516	broad.mit.edu	37	14	92353600	92353600	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr14:92353600C>T	ENST00000267620.10	-	8	968	c.799G>A	c.(799-801)Ggc>Agc	p.G267S	FBLN5_ENST00000556154.1_Missense_Mutation_p.G231S|FBLN5_ENST00000342058.4_Missense_Mutation_p.G226S			Q9UBX5	FBLN5_HUMAN	fibulin 5	226	EGF-like 5; calcium-binding (Potential).				cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				ATGAAAGAGCCGTAGGTGTTG	0.522000													21	132					0	0	1	0	0
CLEC14A	161198	broad.mit.edu	37	14	38724551	38724551	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr14:38724551C>A	ENST00000342213.2	-	1	1023	c.677G>T	c.(676-678)tGc>tTc	p.C226F		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	226						integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		GTCCGCGATGCAAGTAACTGA	0.652000													35	117					6.53348e-20	7.49172e-20	1	1	0
EPRS	2058	broad.mit.edu	37	1	220170347	220170347	+	Missense_Mutation	SNP	A	A	C			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr1:220170347A>C	ENST00000366923.3	-	18	2788	c.2519T>G	c.(2518-2520)cTa>cGa	p.L840R		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	840	3 X 57 AA approximate repeats.|WHEP-TRS 2.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	TTCAGCTTTTAGCTTACGAAC	0.378000													11	89					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56495095	56495095	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr6:56495095T>G	ENST00000370754.5	-	30	4129	c.4130A>C	c.(4129-4131)gAa>gCa	p.E1377A	DST_ENST00000370765.6_Missense_Mutation_p.E873A|DST_ENST00000370788.2_Missense_Mutation_p.E1199A|DST_ENST00000361203.3_Missense_Mutation_p.E1199A|DST_ENST00000370769.4_Missense_Mutation_p.E1199A|DST_ENST00000518935.1_Missense_Mutation_p.E873A|DST_ENST00000446842.2_Missense_Mutation_p.E873A|DST_ENST00000421834.2_Missense_Mutation_p.E1199A|DST_ENST00000244364.6_Missense_Mutation_p.E873A|DST_ENST00000312431.6_Missense_Mutation_p.E1199A			Q03001	DYST_HUMAN	dystonin	1199					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TATAACTGCTTCTTCTTCACA	0.308000													12	35					0	0	1	0	0
DNMT3L	29947	broad.mit.edu	37	21	45680690	45680690	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr21:45680690G>A	ENST00000270172.3	-	3	622	c.139C>T	c.(139-141)Cga>Tga	p.R47*	DNMT3L_ENST00000418993.1_Nonsense_Mutation_p.R47*	NM_013369.3	NP_037501.2	Q9UJW3	DNM3L_HUMAN	DNA (cytosine-5-)-methyltransferase 3-like	47	ADD.				DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		TCTATATTTCGCTGGTTAGCC	0.448000													12	77					0	0	1	0	0
ALS2	57679	broad.mit.edu	37	2	202588135	202588135	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr2:202588135T>C	ENST00000264276.6	-	22	3914	c.3542A>G	c.(3541-3543)gAt>gGt	p.D1181G	ALS2_ENST00000457679.2_Missense_Mutation_p.D493G	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	1181					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						ACACACATCATCTTGCCACAT	0.383000													17	77					0	0	1	0	0
TRAT1	50852	broad.mit.edu	37	3	108549583	108549583	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr3:108549583C>T	ENST00000295756.6	+	2	304	c.74C>T	c.(73-75)tCa>tTa	p.S25L	TRAT1_ENST00000426646.1_Intron|TRAT1_ENST00000493604.1_3'UTR	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN	T cell receptor associated transmembrane adaptor 1	25					cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						TTGGTTATATCACTGATCTTC	0.393000													8	65					0	0	1	0	0
ECE2	9718	broad.mit.edu	37	3	183975424	183975424	+	Silent	SNP	C	C	G			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr3:183975424C>G	ENST00000402825.3	+	2	360	c.360C>G	c.(358-360)ccC>ccG	p.P120P	EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000324557.4_Silent_p.P120P	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	120	Methyltransferase-like region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGGACTTCCCCAGTGCTTCTT	0.612000													4	55					0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82372826	82372826	+	Silent	SNP	G	G	T			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr1:82372826G>T	ENST00000370728.1	+	6	843	c.198G>T	c.(196-198)cgG>cgT	p.R66R	LPHN2_ENST00000370713.1_Silent_p.R66R|LPHN2_ENST00000271029.4_Silent_p.R66R|LPHN2_ENST00000370715.1_Silent_p.R66R|LPHN2_ENST00000394879.1_Silent_p.R66R|LPHN2_ENST00000370721.1_Silent_p.R66R|LPHN2_ENST00000370730.1_Silent_p.R66R|LPHN2_ENST00000319517.6_Silent_p.R66R|LPHN2_ENST00000359929.3_Silent_p.R66R|LPHN2_ENST00000335786.5_Silent_p.R66R|LPHN2_ENST00000370717.2_Silent_p.R66R|LPHN2_ENST00000370723.1_Silent_p.R66R|LPHN2_ENST00000370727.1_Silent_p.R66R|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000370725.1_Silent_p.R66R			O95490	LPHN2_HUMAN	latrophilin 2	66	SUEL-type lectin.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		ACTATGGTCGGACGGATGACA	0.453000													6	94					0.217242	0.217242	1	1	0
SLC35E1	79939	broad.mit.edu	37	19	16666183	16666183	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr19:16666183G>A	ENST00000595753.1	-	5	799	c.782C>T	c.(781-783)aCg>aTg	p.T261M	CTD-3222D19.2_ENST00000409035.1_Intron	NM_024881.4	NP_079157.3	Q96K37	S35E1_HUMAN	solute carrier family 35, member E1	261					transport	integral to membrane				central_nervous_system(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(2)|ovary(1)	15						GAGCAGGAGCGTCCAGGGCCA	0.597000													4	50					0	0	1	0	0
GMNN	51053	broad.mit.edu	37	6	24784759	24784759	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr6:24784759C>T	ENST00000230056.3	+	6	777	c.445C>T	c.(445-447)Cag>Tag	p.Q149*	GMNN_ENST00000356509.3_Nonsense_Mutation_p.Q149*	NM_015895.4	NP_056979.1	O75496	GEMI_HUMAN	geminin, DNA replication inhibitor	149	Necessary and sufficient for interaction with IDAS.				M/G1 transition of mitotic cell cycle|negative regulation of cell cycle|negative regulation of DNA replication|negative regulation of transcription, DNA-dependent	cytosol|nucleoplasm	histone deacetylase binding	p.Q149*(1)		endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	10						AGAACATGTACAGTATATGGC	0.328000													16	34					0	0	1	0	0
AFTPH	54812	broad.mit.edu	37	2	64778891	64778893	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr2:64778891_64778893delGAA	ENST00000422803.1	+	2	597_599	c.283_285delGAA	c.(283-285)del	p.E95del	AFTPH_ENST00000238856.4_In_Frame_Del_p.E95del|AFTPH_ENST00000409933.1_In_Frame_Del_p.E95del|AFTPH_ENST00000238855.7_In_Frame_Del_p.E95del			Q6ULP2	AFTIN_HUMAN	aftiphilin	95					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						CATCACTGCTGAACTTTCTGCTC	0.355													9	50	---	---	---	---					
DOCK3	1795	broad.mit.edu	37	3	51376375	51376375	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr3:51376375delA	ENST00000266037.9	+	37	3705	c.3682delA	c.(3682-3684)aafs	p.K1228fs		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1228	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GAATTTTTACAAATCTGAGAT	0.463													2	4	---	---	---	---					
NFE2L3	9603	broad.mit.edu	37	7	26192147	26192148	+	In_Frame_Ins	INS	-	-	CGG			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr7:26192147_26192148insCGG	ENST00000056233.3	+	1	288_289	c.29_30insCGG	c.(28-30)ggg>gCGGgg	p.10_11insA		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	10					transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						TGGTGGTCGGCCGGCGGCGGCC	0.757													7	10	---	---	---	---					
IL4R	3566	broad.mit.edu	37	16	27363939	27363942	+	Frame_Shift_Del	DEL	AGGG	AGGG	-			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr16:27363939_27363942delAGGG	ENST00000395762.2	+	7	851_854	c.592_595delAGGG	c.(592-597)cafs	p.RA198fs	IL4R_ENST00000449195.1_Frame_Shift_Del_p.RA198fs|IL4R_ENST00000543915.2_Frame_Shift_Del_p.RA198fs|IL4R_ENST00000170630.2_Frame_Shift_Del_p.RA198fs|IL4R_ENST00000380922.3_Frame_Shift_Del_p.RA183fs	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	198	Fibronectin type-III.				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						GATTTCCTACAGGGCACGGGTGAG	0.544													10	120	---	---	---	---					
PAFAH1B3	5050	broad.mit.edu	37	19	42806160	42806160	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr19:42806160delT	ENST00000538771.1	-	3	466	c.110delA	c.(109-111)agfs	p.K37fs	PAFAH1B3_ENST00000262890.3_Frame_Shift_Del_p.K37fs	NM_001145939.1|NM_001145940.1	NP_001139411.1|NP_001139412.1	Q15102	PA1B3_HUMAN	platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 (29kDa)	37					lipid catabolic process|nervous system development	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity|protein binding			breast(1)|large_intestine(2)|ovary(1)	4		Prostate(69;0.0704)				TTCGGGTTCCTTATCTTTGCT	0.647													2	4	---	---	---	---					
