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
KMT2A	4297	broad.mit.edu	37	11	118375411	118375411	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr11:118375411C>G	ENST00000534358.1	+	27	8827	c.8804C>G	c.(8803-8805)tCt>tGt	p.S2935C	KMT2A_ENST00000389506.5_Missense_Mutation_p.S2932C|KMT2A_ENST00000354520.4_Missense_Mutation_p.S2894C	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		TCTGATCTGTCTGTCTTGACC	0.498000													3	108					0	0	0.115264	0	0
PAN2	9924	broad.mit.edu	37	12	56717884	56717884	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr12:56717884C>T	ENST00000425394.2	-	13	2390	c.2014G>A	c.(2014-2016)Gag>Aag	p.E672K	PAN2_ENST00000548043.1_Missense_Mutation_p.E672K|PAN2_ENST00000440411.3_Missense_Mutation_p.E672K|PAN2_ENST00000257931.5_Missense_Mutation_p.E671K	NM_001127460.2	NP_001120932.1	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	672					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						CGCACGGTCTCACTGCCACAG	0.542000													5	135					0	0	0.184627	0	0
RAG1	5896	broad.mit.edu	37	11	36596040	36596040	+	Missense_Mutation	SNP	C	C	T	rs104894289		TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr11:36596040C>T	ENST00000299440.5	+	2	1298	c.1186C>T	c.(1186-1188)Cgc>Tgc	p.R396C		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	396			R -> C (in OS).|R -> H (in OS).|R -> L (in OS).		histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GGGCCGGCCCCGCCAACATCT	0.483000									Familial Hemophagocytic Lymphohistiocytosis				32	74					0	0	0.796494	0	0
APBB2	323	broad.mit.edu	37	4	40936491	40936491	+	Silent	SNP	G	G	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr4:40936491G>A	ENST00000295974.8	-	10	1862	c.1233C>T	c.(1231-1233)aaC>aaT	p.N411N	APBB2_ENST00000513140.1_Silent_p.N390N|APBB2_ENST00000506352.1_Silent_p.N390N|APBB2_ENST00000508593.1_Silent_p.N412N	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	411					cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						CTGGGTCACTGTTGATACTAC	0.383000													16	88					0	0	0.575678	0	0
YEATS2	55689	broad.mit.edu	37	3	183471980	183471980	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr3:183471980G>C	ENST00000305135.5	+	11	1412	c.1217G>C	c.(1216-1218)aGa>aCa	p.R406T		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	406					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TCATTGGAAAGAACACCCACC	0.443000													12	788					0	0	0.411799	0	0
ZFP14	57677	broad.mit.edu	37	19	36853022	36853022	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr19:36853022A>T	ENST00000270001.7	-	3	243	c.128T>A	c.(127-129)aTt>aAt	p.I43N	ZFP14_ENST00000589280.1_Missense_Mutation_p.I43N	NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	43	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.I43N(1)		NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					ACCTAGTGAAATGAAGTTGCT	0.378000													48	73					0	0	0.870114	0	0
LRP12	29967	broad.mit.edu	37	8	105510194	105510194	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr8:105510194C>T	ENST00000276654.5	-	5	694	c.586G>A	c.(586-588)Gat>Aat	p.D196N	LRP12_ENST00000424843.2_Missense_Mutation_p.D177N	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	196	LDL-receptor class A 1.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			ATCTCTTCATCGGAACTATCT	0.423000													4	210					0	0	0.217242	0	0
UBR4	23352	broad.mit.edu	37	1	19436918	19436918	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr1:19436918G>T	ENST00000375267.2	-	80	11936	c.11933C>A	c.(11932-11934)tCt>tAt	p.S3978Y	UBR4_ENST00000375217.2_Missense_Mutation_p.S3971Y|UBR4_ENST00000375226.2_Missense_Mutation_p.S3954Y|UBR4_ENST00000375254.3_Missense_Mutation_p.S3978Y			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3978					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	p.S3978Y(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CTTGGAGATAGAATCCGTCAG	0.537000													28	60					1.06647e-15	1.23019e-15	0.788014	1	0
NRXN3	9369	broad.mit.edu	37	14	80130147	80130147	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr14:80130147C>A	ENST00000281127.7	+	3	1335	c.456C>A	c.(454-456)ttC>ttA	p.F152L	NRXN3_ENST00000554719.1_Missense_Mutation_p.F784L|NRXN3_ENST00000557594.1_Missense_Mutation_p.F152L|NRXN3_ENST00000335750.5_Missense_Mutation_p.F784L|RP11-242P2.1_ENST00000553322.1_RNA|NRXN3_ENST00000556003.1_3'UTR|NRXN3_ENST00000428277.2_Missense_Mutation_p.F152L	NM_138970.3	NP_620426.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	152	Laminin G-like.				angiogenesis|cell adhesion	integral to membrane		p.F784L(1)|p.F152L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GAGTTGTCTTCAACATTGGCA	0.448000													21	29					1.28384e-07	1.43072e-07	0.608945	1	0
CHRNB3	1142	broad.mit.edu	37	8	42587115	42587115	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr8:42587115T>C	ENST00000289957.2	+	5	793	c.665T>C	c.(664-666)tTt>tCt	p.F222S		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	222					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			TCCTATCCCTTTATCACGTAT	0.478000													61	61					0	0	0.870114	0	0
MBD1	4152	broad.mit.edu	37	18	47799971	47799971	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr18:47799971G>A	ENST00000591416.1	-	12	1840	c.1409C>T	c.(1408-1410)cCg>cTg	p.P470L	MBD1_ENST00000585672.1_Missense_Mutation_p.P420L|MBD1_ENST00000585595.1_Missense_Mutation_p.P495L|MBD1_ENST00000457839.2_Missense_Mutation_p.P495L|MBD1_ENST00000436910.1_Missense_Mutation_p.P447L|MBD1_ENST00000424334.2_Missense_Mutation_p.P521L|MBD1_ENST00000398493.1_Missense_Mutation_p.P414L|MBD1_ENST00000587605.1_Missense_Mutation_p.P414L|MBD1_ENST00000382948.5_Missense_Mutation_p.P470L|MBD1_ENST00000590208.1_Missense_Mutation_p.P470L|MBD1_ENST00000353909.3_Missense_Mutation_p.P421L|MBD1_ENST00000349085.2_Missense_Mutation_p.P414L|MBD1_ENST00000347968.3_Missense_Mutation_p.P414L|MBD1_ENST00000269471.5_Missense_Mutation_p.P447L|MBD1_ENST00000398488.1_Missense_Mutation_p.P414L|MBD1_ENST00000339998.6_Missense_Mutation_p.P470L|MBD1_ENST00000588937.1_Missense_Mutation_p.P447L|MBD1_ENST00000591535.1_Missense_Mutation_p.P447L|MBD1_ENST00000398495.2_Missense_Mutation_p.P439L|MBD1_ENST00000269468.5_Missense_Mutation_p.P470L			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	470					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	p.P470L(1)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						AACAGGGCCCGGCACCTGCAC	0.637000													28	32					0	0	0.693898	0	0
ZNF786	136051	broad.mit.edu	37	7	148768162	148768162	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr7:148768162C>A	ENST00000316286.9	-	3	1716	c.1444G>T	c.(1444-1446)Ggg>Tgg	p.G482W	ZNF786_ENST00000491431.1_Missense_Mutation_p.G568W|ZNF786_ENST00000451334.3_Missense_Mutation_p.G531W			Q8N393	ZN786_HUMAN	zinc finger protein 786	568					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CCACACTCCCCGCACGAGAAC	0.632000													3	20					0.150653	0.155992	0.150653	1	0
PDHA2	5161	broad.mit.edu	37	4	96762282	96762282	+	Silent	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr4:96762282C>T	ENST00000295266.4	+	1	1044	c.981C>T	c.(979-981)ctC>ctT	p.L327L		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	327					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	p.L327L(2)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	ACAGCAAGCTCGCCACTGTGG	0.428000													40	53					0	0	0.847076	0	0
RASL10B	91608	broad.mit.edu	37	17	34068186	34068186	+	Silent	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr17:34068186C>T	ENST00000268864.3	+	4	851	c.474C>T	c.(472-474)tgC>tgT	p.C158C		NM_033315.3	NP_201572.1	Q96S79	RSLAB_HUMAN	RAS-like, family 10, member B	158	Small GTPase-like.				small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity	p.C158C(1)		breast(2)|endometrium(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ACGTGGAATGCTCGGCCAAGT	0.647000													22	45					0	0	0.624587	0	0
CLEC3A	10143	broad.mit.edu	37	16	78064472	78064472	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr16:78064472G>T	ENST00000299642.4	+	3	440	c.355G>T	c.(355-357)Gaa>Taa	p.E119*	RP11-281J9.2_ENST00000563114.1_RNA|CLEC3A_ENST00000575655.1_Nonsense_Mutation_p.E110*|CLEC3A_ENST00000565808.1_3'UTR	NM_001244755.1	NP_001231684.1	O75596	CLC3A_HUMAN	C-type lectin domain family 3, member A	110	C-type lectin.				skeletal system development	extracellular region	sugar binding	p.E110*(1)|p.E110Q(1)		NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						GAACTCCGACGAAATCAACGC	0.478000													47	84					8.20599e-20	9.72151e-20	0.859065	1	0
DNAH17	8632	broad.mit.edu	37	17	76487582	76487582	+	Silent	SNP	G	G	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr17:76487582G>A	ENST00000389840.5	-	43	6694	c.6570C>T	c.(6568-6570)gaC>gaT	p.D2190D	DNAH17_ENST00000585328.1_Silent_p.D2199D|RP11-559N14.5_ENST00000585969.1_RNA					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CTATGTCTCCGTCAAGGATGA	0.602000													12	22					0	0	0.411799	0	0
SLC3A1	6519	broad.mit.edu	37	2	44547602	44547602	+	Missense_Mutation	SNP	G	G	A	rs146303355		TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr2:44547602G>A	ENST00000260649.6	+	10	1958	c.1882G>A	c.(1882-1884)Gac>Aac	p.D628N	SLC3A1_ENST00000409740.3_Missense_Mutation_p.D259N|PREPL_ENST00000409411.1_3'UTR|PREPL_ENST00000409936.1_3'UTR|PREPL_ENST00000541738.1_3'UTR|SLC3A1_ENST00000409380.1_Missense_Mutation_p.D350N|PREPL_ENST00000409957.1_3'UTR	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1	628					carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	CAATTCTGCCGACAAAGGCAG	0.413000													4	131					0	0	0.150653	0	0
CELSR2	1952	broad.mit.edu	37	1	109794495	109794495	+	Silent	SNP	G	G	C			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr1:109794495G>C	ENST00000271332.3	+	1	1855	c.1794G>C	c.(1792-1794)gtG>gtC	p.V598V		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	598	Cadherin 4.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GTGTCAGCGTGACTGTCCTGG	0.562000													4	77					0	0	0.150653	0	0
POU5F1B	5462	broad.mit.edu	37	8	128428272	128428272	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr8:128428272G>A	ENST00000465342.2	+	2	1318	c.161G>A	c.(160-162)gGc>gAc	p.G54D	CASC8_ENST00000501396.1_RNA|CASC8_ENST00000502082.1_RNA|CASC8_ENST00000523825.1_RNA|POU5F1B_ENST00000391675.1_Missense_Mutation_p.G54D			Q06416	P5F1B_HUMAN	POU class 5 homeobox 1B	54						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)|prostate(1)|urinary_tract(1)	3						GTTGGGCCAGGCTCTGAGGTG	0.677000													9	8					0	0	0.335167	0	0
SLC4A3	6508	broad.mit.edu	37	2	220501431	220501431	+	Silent	SNP	C	C	G			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr2:220501431C>G	ENST00000358055.3	+	16	2882	c.2370C>G	c.(2368-2370)ctC>ctG	p.L790L	SLC4A3_ENST00000373760.2_Silent_p.L790L|SLC4A3_ENST00000373762.3_Silent_p.L817L|SLC4A3_ENST00000273063.6_Silent_p.L817L|SLC4A3_ENST00000317151.3_Silent_p.L790L			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	790	Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGGAGTACCTCACTGGCCGGG	0.642000													4	144					0	0	0.184627	0	0
PLOD3	8985	broad.mit.edu	37	7	100859263	100859263	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr7:100859263G>A	ENST00000223127.3	-	5	939	c.541C>T	c.(541-543)Cgc>Tgc	p.R181C		NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	181					protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding	p.R181C(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	TTCCACTGGCGCACGATTTGG	0.617000													34	61					0	0	0.796494	0	0
MAP9	79884	broad.mit.edu	37	4	156289952	156289952	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr4:156289952C>A	ENST00000311277.4	-	5	757	c.494G>T	c.(493-495)aGc>aTc	p.S165I	AC097467.2_ENST00000597831.1_RNA|AC097467.2_ENST00000596165.1_RNA|MAP9_ENST00000515654.1_Missense_Mutation_p.S165I|MAP9_ENST00000379248.2_Missense_Mutation_p.S92I	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	165					cell division|mitosis	cytoplasm|microtubule|spindle		p.S165I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		TGTGTCAAGGCTGTTGTTTTC	0.388000													38	69					6.21074e-16	7.19571e-16	0.859065	1	0
KMT2A	4297	broad.mit.edu	37	11	118376025	118376025	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr11:118376025C>G	ENST00000534358.1	+	27	9441	c.9418C>G	c.(9418-9420)Cca>Gca	p.P3140A	KMT2A_ENST00000389506.5_Missense_Mutation_p.P3137A|KMT2A_ENST00000354520.4_Missense_Mutation_p.P3099A	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		AGGACTAAATCCAAGCTTGCC	0.468000													7	168					0	0	0.307466	0	0
SACM1L	22908	broad.mit.edu	37	3	45744942	45744942	+	Silent	SNP	T	T	C			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr3:45744942T>C	ENST00000389061.5	+	2	249	c.45T>C	c.(43-45)ccT>ccC	p.P15P	SACM1L_ENST00000541314.1_5'UTR|SACM1L_ENST00000464524.1_3'UTR|SACM1L_ENST00000418611.1_5'UTR	NM_014016.3	NP_054735.3	Q9NTJ5	SAC1_HUMAN	SAC1 suppressor of actin mutations 1-like (yeast)	15						Golgi apparatus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)		ATATCACACCTGAAAAATTTT	0.348000													3	125					0	0	0.115264	0	0
CA2	760	broad.mit.edu	37	8	86389459	86389459	+	Silent	SNP	G	G	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr8:86389459G>A	ENST00000285379.5	+	6	848	c.618G>A	c.(616-618)gtG>gtA	p.V206V		NM_000067.2	NP_000058.1	P00918	CAH2_HUMAN	carbonic anhydrase II	206					one-carbon metabolic process	apical part of cell	carbonate dehydratase activity|zinc ion binding			central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11					Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	TGGAATGTGTGACCTGGATTG	0.512000													9	430					0	0	0.335167	0	0
KIAA1549	57670	broad.mit.edu	37	7	138545904	138545904	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr7:138545904G>A	ENST00000440172.1	-	16	5276	c.5228C>T	c.(5227-5229)aCg>aTg	p.T1743M	KIAA1549_ENST00000422774.1_Missense_Mutation_p.T1743M|KIAA1549_ENST00000242365.4_Missense_Mutation_p.T1693M	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	1743						integral to membrane		p.T1693M(1)|p.T1743M(1)	KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						ATTGTTGGCCGTCTGGGCTGG	0.602000			O	BRAF	pilocytic astrocytoma								44	54					0	0	0.870114	0	0
ZNF676	163223	broad.mit.edu	37	19	22363197	22363197	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr19:22363197C>T	ENST00000397121.2	-	3	1639	c.1322G>A	c.(1321-1323)aGa>aAa	p.R441K		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	441					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R441T(1)|p.R441K(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				AGCATGAATTCTCTTGTGTTC	0.438000													90	159					0	0	0.870114	0	0
CDK11A	728642	broad.mit.edu	37	1	1635057	1635057	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr1:1635057C>T	ENST00000356200.3	-	17	2050	c.1816G>A	c.(1816-1818)Ggg>Agg	p.G606R	CDK11A_ENST00000378633.1_Missense_Mutation_p.G643R|RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000378638.2_Missense_Mutation_p.G606R|CDK11A_ENST00000357760.2_Missense_Mutation_p.G639R|CDK11A_ENST00000358779.5_Missense_Mutation_p.G630R|CDK11A_ENST00000404249.3_Missense_Mutation_p.G640R					cyclin-dependent kinase 11A											central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1)	18						CTGGGGGTCCCCAGCTCCTGA	0.572000													3	7					0	0	0.115264	0	0
SPG20	23111	broad.mit.edu	37	13	36909222	36909222	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr13:36909222C>T	ENST00000451493.1	-	2	963	c.746G>A	c.(745-747)cGa>cAa	p.R249Q	SPG20_ENST00000438666.2_Missense_Mutation_p.R249Q|SPG20_ENST00000355182.4_Missense_Mutation_p.R249Q|SPG20_ENST00000494062.2_Missense_Mutation_p.R249Q|SPG20_ENST00000495510.1_5'UTR	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	249					cell death	cytoplasm	ubiquitin protein ligase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		CCTCACAATTCGAAGGTACCC	0.398000													4	164					0	0	0.184627	0	0
DNAH1	25981	broad.mit.edu	37	3	52404531	52404531	+	Silent	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr3:52404531C>T	ENST00000420323.2	+	40	6558	c.6297C>T	c.(6295-6297)atC>atT	p.I2099I		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2099					ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.I2099I(1)		cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGAGTCGCATCGTAGAGTTGA	0.557000													12	27					0	0	0.411799	0	0
F2RL3	9002	broad.mit.edu	37	19	17001171	17001171	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr19:17001171C>A	ENST00000248076.3	+	2	1227	c.897C>A	c.(895-897)agC>agA	p.S299R		NM_003950.2	NP_003941.2	Q96RI0	PAR4_HUMAN	coagulation factor II (thrombin) receptor-like 3	299					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation|positive regulation of release of sequestered calcium ion into cytosol	extracellular region|integral to plasma membrane	thrombin receptor activity	p.S299R(1)		cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						TCGTGCCCAGCAACCTGCTGC	0.701000													9	8					0.000274275	0.000296849	0.307466	1	0
INPP5F	22876	broad.mit.edu	37	10	121586186	121586186	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr10:121586186C>G	ENST00000361976.2	+	20	2459	c.2293C>G	c.(2293-2295)Caa>Gaa	p.Q765E	INPP5F_ENST00000369080.3_Missense_Mutation_p.Q155E	NM_014937.3	NP_055752.1	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	765							phosphoric ester hydrolase activity			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		TATCAGGTCTCAAAACCAAGG	0.363000													18	254					0	0	0.575678	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353000	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			30	218					0	0	0.740014	0	0
IBTK	25998	broad.mit.edu	37	6	82923970	82923970	+	Silent	SNP	T	T	C			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr6:82923970T>C	ENST00000306270.7	-	12	2727	c.2178A>G	c.(2176-2178)aaA>aaG	p.K726K	IBTK_ENST00000510291.1_Silent_p.K726K|IBTK_ENST00000503631.1_Intron	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	726					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity	p.K726K(1)		central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		TGAAGTCGAATTTCTTTGCAA	0.353000													42	69					0	0	0.827153	0	0
TUBA3D	113457	broad.mit.edu	37	2	132235898	132235898	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr2:132235898G>C	ENST00000321253.6	+	2	272	c.165G>C	c.(163-165)gaG>gaC	p.E55D		NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	55					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	p.E55D(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		TCTTCAGTGAGACTGGAGCTG	0.557000													18	58					0	0	0.681144	0	0
CSF2RA	1438	broad.mit.edu	37	X	1409269	1409269	+	Silent	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chrX:1409269C>T	ENST00000381524.3	+	7	699	c.513C>T	c.(511-513)gaC>gaT	p.D171D	CSF2RA_ENST00000355805.2_Silent_p.D171D|CSF2RA_ENST00000417535.2_Silent_p.D171D|CSF2RA_ENST00000361536.3_Silent_p.D171D|CSF2RA_ENST00000381509.3_Silent_p.D171D|CSF2RA_ENST00000432318.2_Silent_p.D171D|CSF2RA_ENST00000501036.2_Silent_p.D38D|CSF2RA_ENST00000381529.3_Silent_p.D171D|CSF2RA_ENST00000355432.3_Silent_p.D171D|CSF2RA_ENST00000381500.1_Silent_p.D171D			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	171						extracellular region|integral to plasma membrane	cytokine receptor activity	p.D171D(1)		central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	ACATACAAGACTCAGGAACCC	0.433000													96	61					0	0	0.870114	0	0
EED	8726	broad.mit.edu	37	11	85977185	85977185	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr11:85977185T>C	ENST00000263360.6	+	8	1473	c.787T>C	c.(787-789)Tgg>Cgg	p.W263R	EED_ENST00000528180.1_Intron|EED_ENST00000351625.6_Missense_Mutation_p.W263R|EED_ENST00000327320.4_Missense_Mutation_p.W263R	NM_003797.3	NP_003788.2	O75530	EED_HUMAN	embryonic ectoderm development	263	Interaction with EZH2 (By similarity).|Required for interaction with the matrix protein MA of HIV-1.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|identical protein binding			haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				TCTTAAACTTTGGAGGATCAA	0.294000													5	76					0	0	0.248553	0	0
BCL6	604	broad.mit.edu	37	3	187447102	187447102	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr3:187447102G>A	ENST00000406870.2	-	5	1457	c.1091C>T	c.(1090-1092)gCc>gTc	p.A364V	BCL6_ENST00000450123.2_Missense_Mutation_p.A364V|RP11-211G3.3_ENST00000449623.1_Intron|RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000232014.4_Missense_Mutation_p.A364V	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	364					negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		GGGGCTCTTGGCTGGAGGGGA	0.577000			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""								31	1288					0	0	0.608945	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													5	86					0	0	0.184627	0	0
POLR3E	55718	broad.mit.edu	37	16	22344979	22344979	+	Silent	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr16:22344979C>T	ENST00000299853.5	+	21	2252	c.2085C>T	c.(2083-2085)agC>agT	p.S695S	POLR3E_ENST00000359210.4_Silent_p.S653S|POLR3E_ENST00000418581.2_Silent_p.S659S|POLR3E_ENST00000564209.1_Silent_p.S674S	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	695					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity	p.S695S(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		GCTGTGTAAGCTATGGTGGCA	0.433000													33	58					0	0	0.788014	0	0
DEFB114	245928	broad.mit.edu	37	6	49928019	49928019	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr6:49928019C>G	ENST00000322066.3	-	2	195	c.196G>C	c.(196-198)Gat>Cat	p.D66H		NM_001037499.1	NP_001032588.1	Q30KQ6	DB114_HUMAN	defensin, beta 114	66					defense response to bacterium	extracellular region		p.D66H(1)		kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Lung NSC(77;0.042)					AACATATCATCTTCTTCATAC	0.358000													17	39					0	0	0.557998	0	0
XPOT	11260	broad.mit.edu	37	12	64818958	64818958	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr12:64818958G>T	ENST00000332707.5	+	13	1977	c.1448G>T	c.(1447-1449)cGa>cTa	p.R483L		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	483	Necessary for tRNA-binding, cytoplasmic localization and nuclear export.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		GATATGATGCGAACTGTAAGT	0.358000													7	215					1.76689e-08	1.99439e-08	0.335167	1	0
SERPIND1	3053	broad.mit.edu	37	22	21138321	21138321	+	Silent	SNP	G	G	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr22:21138321G>A	ENST00000215727.5	+	3	1234	c.951G>A	c.(949-951)gaG>gaA	p.E317E	PI4KA_ENST00000466162.1_Intron|PI4KA_ENST00000255882.6_Intron|SERPIND1_ENST00000406799.1_Silent_p.E317E|PI4KA_ENST00000572273.1_Intron	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	317					blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)	GGCTGAATGAGAGAGAGGTAG	0.502000											OREG0026325	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	270					0	0	0.654019	0	0
IRS4	8471	broad.mit.edu	37	X	107978638	107978638	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chrX:107978638C>T	ENST00000372129.2	-	1	1013	c.937G>A	c.(937-939)Gac>Aac	p.D313N		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	313	IRS-type PTB.					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						ACCACACAGTCATCGACCTGC	0.547000													6	169					0	0	0.278610	0	0
CTNND2	1501	broad.mit.edu	37	5	11732259	11732259	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr5:11732259C>A	ENST00000304623.8	-	2	352	c.163G>T	c.(163-165)Gtc>Ttc	p.V55F	CTNND2_ENST00000359640.2_Missense_Mutation_p.V55F|CTNND2_ENST00000458100.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	55					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.V55F(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TGTTCTTTGACTGAGGCGAGG	0.423000													66	104					2.15316e-23	2.57401e-23	0.870114	1	0
THSD7A	221981	broad.mit.edu	37	7	11676072	11676072	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr7:11676072G>A	ENST00000423059.3	-	2	958	c.707C>T	c.(706-708)aCg>aTg	p.T236M		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	236	TSP type-1 2.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CTGGAACTCCGTCAGGTTTGG	0.657000										HNSCC(18;0.044)			4	38					0	0	0.150653	0	0
IGFN1	91156	broad.mit.edu	37	1	201195014	201195014	+	Missense_Mutation	SNP	G	G	A	rs79942057	byFrequency	TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr1:201195014G>A	ENST00000335211.4	+	22	10679	c.10549G>A	c.(10549-10551)Gag>Aag	p.E3517K	IGFN1_ENST00000295591.8_3'UTR	NM_001164586.1	NP_001158058.1			immunoglobulin-like and fibronectin type III domain containing 1									p.E677K(1)		autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GGTGACGGCCGAGTGGGAACC	0.692000													21	32					0	0	0.608945	0	0
EIF2AK4	440275	broad.mit.edu	37	15	40241351	40241351	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr15:40241351C>G	ENST00000263791.5	+	4	438	c.395C>G	c.(394-396)tCa>tGa	p.S132*	EIF2AK4_ENST00000559624.1_Nonsense_Mutation_p.S132*|EIF2AK4_ENST00000382727.2_Nonsense_Mutation_p.S132*	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	132	RWD.				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		CACGTGCAGTCATTTCTCAGC	0.478000													21	320					0	0	0.654019	0	0
ZSCAN4	201516	broad.mit.edu	37	19	58189827	58189827	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr19:58189827G>T	ENST00000318203.5	+	5	1553	c.856G>T	c.(856-858)Gcc>Tcc	p.A286S		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	286					telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CCCTGAGTCTGCCCTTACCCA	0.483000													6	145					0.00116845	0.00125429	0.217242	1	0
TUBA4A	7277	broad.mit.edu	37	2	220116386	220116386	+	Silent	SNP	G	G	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr2:220116386G>A	ENST00000392088.2	-	3	786	c.231C>T	c.(229-231)ctC>ctT	p.L77L	TUBA4A_ENST00000248437.4_Silent_p.L92L|TUBA4A_ENST00000498660.1_5'UTR	NM_001278552.1	NP_001265481.1	P68366	TBA4A_HUMAN	tubulin, alpha 4a	92					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization	cytosol|extracellular region|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCCCAGTGATGAGCTGCTCTG	0.547000													12	68					0	0	0.411799	0	0
ECE2	9718	broad.mit.edu	37	3	184008348	184008348	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr3:184008348G>A	ENST00000402825.3	+	15	2013	c.2013G>A	c.(2011-2013)tgG>tgA	p.W671*	ECE2_ENST00000404464.3_Nonsense_Mutation_p.W553*|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000357474.5_Nonsense_Mutation_p.W599*|ECE2_ENST00000359140.4_Nonsense_Mutation_p.W524*	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	671	Endothelin-converting enzyme 2 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)			CCGCCAGGTGGAGCATGACCC	0.622000													14	522					0	0	0.479597	0	0
RASSF9	9182	broad.mit.edu	37	12	86199550	86199550	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr12:86199550T>C	ENST00000361228.3	-	2	606	c.238A>G	c.(238-240)Ata>Gta	p.I80V		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	80	Ras-associating.				endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity	p.I80V(1)		endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CACTTCTCTATGATGCAGTAA	0.488000													71	87					0	0	0.870114	0	0
ACRC	93953	broad.mit.edu	37	X	70823703	70823703	+	Silent	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chrX:70823703C>T	ENST00000373695.1	+	7	1113	c.576C>T	c.(574-576)aaC>aaT	p.N192N	ACRC_ENST00000373696.3_Silent_p.N192N			Q96QF7	ACRC_HUMAN	acidic repeat containing	192	Asp/Ser-rich.					nucleus				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					CCGACGACAACAGTGATGATT	0.498000													6	245					0	0	0.248553	0	0
ZNF883	169834	broad.mit.edu	37	9	115760138	115760138	+	RNA	SNP	G	G	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr9:115760138G>A	ENST00000427548.1	-	0	1675							P0CG24	ZN883_HUMAN	zinc finger protein 883						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										AGATATGGCTGAAAGCTTTCC	0.393000													6	115					0	0	0.278610	0	0
MEGF11	84465	broad.mit.edu	37	15	66190400	66190400	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr15:66190400C>T	ENST00000409699.2	-	23	3179	c.3007G>A	c.(3007-3009)Ggt>Agt	p.G1003S	MEGF11_ENST00000288745.3_Missense_Mutation_p.G928S|MEGF11_ENST00000422354.1_Missense_Mutation_p.G1003S|MEGF11_ENST00000360698.4_3'UTR|MEGF11_ENST00000395625.2_Missense_Mutation_p.G928S			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	1003						basolateral plasma membrane|integral to membrane		p.G928S(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						GAGTTATGACCGCAACCTTCT	0.458000													29	46					0	0	0.717897	0	0
MCU	90550	broad.mit.edu	37	10	74645514	74645514	+	Silent	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr10:74645514C>T	ENST00000536019.1	+	8	1288	c.843C>T	c.(841-843)gaC>gaT	p.D281D	MCU_ENST00000605416.1_3'UTR|MCU_ENST00000373053.3_Silent_p.D330D|MCU_ENST00000357157.6_Silent_p.D309D	NM_001270680.1	NP_001257609.1	Q8NE86	MCU_HUMAN	mitochondrial calcium uniporter	330					elevation of mitochondrial calcium ion concentration|mitochondrial calcium ion transport|protein complex oligomerization	integral to membrane|mitochondrial inner membrane	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	14						CAGAAATGGACCTTAAGAGAC	0.393000													20	88					0	0	0.681144	0	0
TSPAN2	10100	broad.mit.edu	37	1	115604779	115604779	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr1:115604779C>T	ENST00000369516.2	-	3	278	c.247G>A	c.(247-249)Gag>Aag	p.E83K	TSPAN2_ENST00000369515.2_Missense_Mutation_p.E83K|TSPAN2_ENST00000369514.2_Missense_Mutation_p.E83K	NM_005725.4	NP_005716.2	O60636	TSN2_HUMAN	tetraspanin 2	83						integral to membrane				central_nervous_system(1)|large_intestine(4)|lung(3)|pancreas(1)|prostate(1)	10	Lung SC(450;0.211)	all_cancers(81;2.9e-07)|all_epithelial(167;1.42e-06)|all_lung(203;6.72e-06)|Lung NSC(69;1.13e-05)|Acute lymphoblastic leukemia(138;0.191)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		CATTGCGACTCCCGCATGGCT	0.632000													6	15					0	0	0.248553	0	0
NOL4	8715	broad.mit.edu	37	18	31538327	31538327	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr18:31538327C>T	ENST00000261592.5	-	7	1409	c.1112G>A	c.(1111-1113)cGa>cAa	p.R371Q	NOL4_ENST00000269185.4_Missense_Mutation_p.R257Q|NOL4_ENST00000589544.1_Missense_Mutation_p.R371Q|NOL4_ENST00000535384.1_Missense_Mutation_p.R86Q|NOL4_ENST00000538587.1_Missense_Mutation_p.R297Q|NOL4_ENST00000535475.1_Missense_Mutation_p.R216Q	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	371						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						CTCAGCTCCTCGGTCTACACT	0.453000													11	351					0	0	0.479597	0	0
SAMD9L	219285	broad.mit.edu	37	7	92764780	92764780	+	Missense_Mutation	SNP	C	C	G	rs144605831	byFrequency	TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr7:92764780C>G	ENST00000318238.4	-	5	1721	c.505G>C	c.(505-507)Gat>Cat	p.D169H	SAMD9L_ENST00000411955.1_Missense_Mutation_p.D169H|SAMD9L_ENST00000437805.1_Missense_Mutation_p.D169H	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	169										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TGGAACTGATCAAAAGGATAT	0.363000													18	231					0	0	0.520397	0	0
ALG10	84920	broad.mit.edu	37	12	34179707	34179707	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr12:34179707C>G	ENST00000266483.2	+	3	1598	c.1279C>G	c.(1279-1281)Ctt>Gtt	p.L427V	RP11-847H18.2_ENST00000501954.2_RNA|ALG10_ENST00000538927.1_Intron	NM_032834.3	NP_116223.3	Q5BKT4	AG10A_HUMAN	ALG10, alpha-1,2-glucosyltransferase	427					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				CATTTATAGGCTTAACATACC	0.338000													116	201					0	0	0.870114	0	0
SYT10	341359	broad.mit.edu	37	12	33560277	33560277	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr12:33560277C>T	ENST00000228567.3	-	3	820	c.524G>A	c.(523-525)cGa>cAa	p.R175Q	SYT10_ENST00000535526.1_5'UTR	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	175						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					CAGGTGTCTTCGGAAGGAACT	0.438000													5	166					0	0	0.217242	0	0
RGS22	26166	broad.mit.edu	37	8	101065137	101065137	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr8:101065137G>A	ENST00000360863.6	-	10	1776	c.1582C>T	c.(1582-1584)Cac>Tac	p.H528Y	RGS22_ENST00000523437.1_Missense_Mutation_p.H516Y|RGS22_ENST00000523287.1_Missense_Mutation_p.H347Y	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	528					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	p.H528Y(1)	RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TGACGGAGGTGCCAGAATTTC	0.408000													119	188					0	0	0.870114	0	0
DOCK7	85440	broad.mit.edu	37	1	62954604	62954604	+	Splice_Site	SNP	C	C	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr1:62954604C>A	ENST00000251157.5	-	42	5500		c.e42+1		DOCK7_ENST00000340370.5_Splice_Site	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7						activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding	p.?(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						GGAATCATTACCTGATGAACA	0.353000													18	67					1.15919e-05	1.27027e-05	0.575678	1	0
TTC13	79573	broad.mit.edu	37	1	231064751	231064751	+	Silent	SNP	G	G	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr1:231064751G>A	ENST00000366661.4	-	12	1396	c.1389C>T	c.(1387-1389)caC>caT	p.H463H	TTC13_ENST00000414259.1_Silent_p.H410H|TTC13_ENST00000366662.4_Silent_p.H410H	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	463							binding	p.H463H(1)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		TTTTAGCCCAGTGGTCCTTAA	0.413000													72	106					0	0	0.870114	0	0
CDH9	1007	broad.mit.edu	37	5	26881576	26881576	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr5:26881576G>T	ENST00000231021.4	-	12	2211	c.2039C>A	c.(2038-2040)cCa>cAa	p.P680Q		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	680					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TCTTGCCTCTGGATTCCTTAA	0.433000													14	267					1.49906e-05	1.6359e-05	0.457914	1	0
RBFA	79863	broad.mit.edu	37	18	77806103	77806103	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr18:77806103G>A	ENST00000306735.5	+	7	1118	c.980G>A	c.(979-981)aGa>aAa	p.R327K	RBFADN_ENST00000569722.1_Intron|RBFA_ENST00000262197.7_3'UTR	NM_024805.2	NP_079081.2	Q8N0V3	RBFA_HUMAN	ribosome binding factor A (putative)	327					rRNA processing	mitochondrion				endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						GAGGCAGAGAGAGGAGGTGGC	0.582000													3	48					0	0	0.115264	0	0
RPL23AP53	644128	broad.mit.edu	37	8	163690	163690	+	RNA	SNP	T	T	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr8:163690T>A	ENST00000606975.1	-	0	231																											GAGCAGGAGCTTCCTTCGCTT	0.428000													45	109					0	0	0.859065	0	0
RAB11FIP1	80223	broad.mit.edu	37	8	37730417	37730417	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr8:37730417C>T	ENST00000330843.4	-	4	1915	c.1903G>A	c.(1903-1905)Gag>Aag	p.E635K	RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	635					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			GTTTGCAACTCTGCCTTAGGG	0.502000													24	219					0	0	0.639603	0	0
SALL3	27164	broad.mit.edu	37	18	76754440	76754440	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr18:76754440G>A	ENST00000536229.3	+	1	2759	c.2050G>A	c.(2050-2052)Gac>Aac	p.D684N	SALL3_ENST00000537592.2_Missense_Mutation_p.D817N|SALL3_ENST00000575389.2_Missense_Mutation_p.D817N			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	817					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D817N(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CGCGGCCACCGACCCGGCCAA	0.642000													14	12					0	0	0.435327	0	0
UBE3A	7337	broad.mit.edu	37	15	25616832	25616832	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr15:25616832G>T	ENST00000232165.3	-	6	1145	c.489C>A	c.(487-489)agC>agA	p.S163R	UBE3A_ENST00000566215.1_Missense_Mutation_p.S143R|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000397954.2_Missense_Mutation_p.S166R|UBE3A_ENST00000428984.2_Missense_Mutation_p.S143R|UBE3A_ENST00000438097.1_Missense_Mutation_p.S143R	NM_000462.3|NM_130839.2	NP_000453.2|NP_570854.1	Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	166					brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	p.S166R(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		CTTTCCGGAAGCTCTGTACCA	0.363000													70	106					7.07328e-35	8.53337e-35	0.870114	1	0
CNTRL	11064	broad.mit.edu	37	9	123880662	123880662	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr9:123880662G>C	ENST00000373855.1	+	12	1754	c.1494G>C	c.(1492-1494)ttG>ttC	p.L498F	CNTRL_ENST00000238341.5_Missense_Mutation_p.L498F|CNTRL_ENST00000373865.2_3'UTR			Q7Z7A1	CNTRL_HUMAN	centriolin	498					cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						ACAAGCAGTTGAGTGGTAGAC	0.393000													5	342					0	0	0.217242	0	0
TMEM110-MUSTN1	100526772	broad.mit.edu	37	3	52867433	52867433	+	Silent	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr3:52867433C>T	ENST00000504329.1	-	10	1137	c.1026G>A	c.(1024-1026)tcG>tcA	p.S342S	MUSTN1_ENST00000446157.2_Silent_p.S52S|MUSTN1_ENST00000486659.1_Silent_p.S57S	NM_001198974.2	NP_001185903.2												p.S52S(1)									ACGGGGCGGCCGAGCCAGCTT	0.602000													22	25					0	0	0.592651	0	0
RFFL	117584	broad.mit.edu	37	17	33343399	33343399	+	Silent	SNP	G	G	C			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr17:33343399G>C	ENST00000315249.7	-	5	1098	c.876C>G	c.(874-876)ctC>ctG	p.L292L	RFFL_ENST00000394597.2_Silent_p.L292L|RFFL_ENST00000584655.1_Silent_p.L264L|RFFL_ENST00000447669.2_Silent_p.L292L|RFFL_ENST00000415395.2_Silent_p.L292L|RFFL_ENST00000413582.2_Silent_p.L292L|RFFL_ENST00000378516.2_Silent_p.L292L|RFFL_ENST00000268850.7_Silent_p.L264L|RAD51L3-RFFL_ENST00000593039.1_Silent_p.L209L			Q8WZ73	RFFL_HUMAN	ring finger and FYVE-like domain containing E3 ubiquitin protein ligase	292					apoptosis	membrane	ligase activity|zinc ion binding			kidney(1)|large_intestine(2)|lung(3)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		CCAGGTGCTGGAGTCCTTTCT	0.502000													3	209					0	0	0.150653	0	0
NEURL1	9148	broad.mit.edu	37	10	105330708	105330708	+	Silent	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr10:105330708C>T	ENST00000369780.4	+	2	574	c.165C>T	c.(163-165)agC>agT	p.S55S	NEURL_ENST00000369777.2_Silent_p.S38S	NM_004210.4	NP_004201.3	O76050	NEU1A_HUMAN		55					nervous system development	perinuclear region of cytoplasm	zinc ion binding	p.S55S(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		TGCTGCCCAGCGGGGGGCTCC	0.652000													68	107					0	0	0.870114	0	0
NRP1	8829	broad.mit.edu	37	10	33552574	33552574	+	Splice_Site	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr10:33552574C>T	ENST00000265371.4	-	5	1183	c.658_splice	c.e5+1	p.V220_splice	NRP1_ENST00000374821.5_Splice_Site_p.V220_splice|NRP1_ENST00000374823.5_Splice_Site_p.V220_splice|NRP1_ENST00000374867.2_Splice_Site_p.V220_splice|NRP1_ENST00000374822.4_Splice_Site_p.V220_splice|NRP1_ENST00000395995.1_Splice_Site_p.V220_splice|NRP1_ENST00000374816.3_Splice_Site_p.V220_splice			O14786	NRP1_HUMAN	neuropilin 1	220	CUB 2.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	TCATTCTTACCATCAGGGAAT	0.463000													9	44					0	0	0.307466	0	0
ACSM2A	123876	broad.mit.edu	37	16	20489931	20489931	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr16:20489931G>A	ENST00000573854.1	+	10	1327	c.1213G>A	c.(1213-1215)Ggc>Agc	p.G405S	ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000536134.1_Missense_Mutation_p.G177S|ACSM2A_ENST00000575690.1_Missense_Mutation_p.G405S|ACSM2A_ENST00000396104.2_Missense_Mutation_p.G405S|ACSM2A_ENST00000219054.6_Missense_Mutation_p.G405S|ACSM2A_ENST00000417235.2_Missense_Mutation_p.G326S	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	405					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						CCTGCCCCCCGGCACAGAAGG	0.512000													30	81					0	0	0.750413	0	0
NLRP1	22861	broad.mit.edu	37	17	5418344	5418344	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr17:5418344C>A	ENST00000345221.3	-	16	4574	c.4020G>T	c.(4018-4020)caG>caT	p.Q1340H	NLRP1_ENST00000354411.3_Missense_Mutation_p.Q1354H|NLRP1_ENST00000269280.4_Missense_Mutation_p.Q1340H|NLRP1_ENST00000577119.1_Missense_Mutation_p.Q1310H|NLRP1_ENST00000572272.1_Missense_Mutation_p.Q1384H|NLRP1_ENST00000262467.5_Intron	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	1384					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding	p.Q1384H(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GCTCTCGATACTGGTCCACAA	0.582000													21	37					8.10497e-08	9.07067e-08	0.592651	1	0
COPS7A	50813	broad.mit.edu	37	12	6833912	6833912	+	Silent	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr12:6833912C>T	ENST00000543155.1	+	2	572	c.90C>T	c.(88-90)ctC>ctT	p.L30L	COPS7A_ENST00000539735.1_Silent_p.L30L|COPS7A_ENST00000534877.1_Silent_p.L30L|COPS7A_ENST00000534947.1_Silent_p.L30L|COPS7A_ENST00000542150.1_Intron|COPS7A_ENST00000538410.1_Silent_p.L30L|COPS7A_ENST00000229251.3_Silent_p.L30L	NM_001164094.1	NP_001157566.1	Q9UBW8	CSN7A_HUMAN	COP9 signalosome subunit 7A	30					cullin deneddylation	cytoplasm|signalosome				endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	10						TGGCCACACTCATCCATCAGG	0.572000													6	99					0	0	0.217242	0	0
MUC4	4585	broad.mit.edu	37	3	195486032	195486032	+	Silent	SNP	G	G	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr3:195486032G>A	ENST00000463781.3	-	17	15408	c.14949C>T	c.(14947-14949)ttC>ttT	p.F4983F	MUC4_ENST00000475231.1_Silent_p.F4931F|MUC4_ENST00000346145.4_Silent_p.F747F|MUC4_ENST00000349607.4_Silent_p.F696F	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1740					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CTCTGAGCGTGAAGTTGGCAT	0.552000													13	1568					0	0	0.278610	0	0
QPCTL	54814	broad.mit.edu	37	19	46206184	46206184	+	Silent	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr19:46206184C>T	ENST00000012049.5	+	7	1247	c.1026C>T	c.(1024-1026)atC>atT	p.I342I	QPCTL_ENST00000366382.4_Silent_p.I248I	NM_017659.3	NP_060129.2	Q9NXS2	QPCTL_HUMAN	glutaminyl-peptide cyclotransferase-like	342					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	Golgi membrane|integral to membrane	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|protein binding|zinc ion binding			breast(1)|cervix(2)|endometrium(1)|lung(5)|skin(1)|stomach(1)	11		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0059)|GBM - Glioblastoma multiforme(486;0.0882)|Epithelial(262;0.208)		TCCATCTCATCTCCACGCCCT	0.597000													30	226					0	0	0.750413	0	0
KIR3DX1	90011	broad.mit.edu	37	19	55048157	55048157	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr19:55048157C>A	ENST00000335056.3	+	5	762	c.724C>A	c.(724-726)Ctc>Atc	p.L242I	KIR3DX1_ENST00000482404.1_3'UTR																endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		GAAGTTGACCCTCTTCTGCAG	0.502000											OREG0003665	type=REGULATORY REGION|Gene=BC033195|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	28	52					1.16021e-09	1.32667e-09	0.717897	1	0
ANO1	55107	broad.mit.edu	37	11	70007338	70007338	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr11:70007338G>T	ENST00000355303.5	+	17	1955	c.1650G>T	c.(1648-1650)atG>atT	p.M550I	ANO1_ENST00000398543.2_Missense_Mutation_p.M404I|ANO1_ENST00000531349.1_Missense_Mutation_p.M259I|ANO1_ENST00000538023.1_Missense_Mutation_p.M550I|ANO1_ENST00000530676.1_Missense_Mutation_p.M404I|ANO1_ENST00000316296.5_Missense_Mutation_p.M492I	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	550					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						CCTTGGCCATGAACTCCTCCC	0.582000													22	44					8.10497e-08	9.07067e-08	0.592651	1	0
ZER1	10444	broad.mit.edu	37	9	131503106	131503106	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr9:131503106C>T	ENST00000291900.2	-	12	2204	c.1798G>A	c.(1798-1800)Gaa>Aaa	p.E600K		NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN	zyg-11 related, cell cycle regulator	600					ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						TCCTTCACTTCTGCCACATTC	0.463000													12	192					0	0	0.411799	0	0
DNAH7	56171	broad.mit.edu	37	2	196673458	196673458	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr2:196673458C>T	ENST00000312428.6	-	53	10131	c.10031G>A	c.(10030-10032)cGt>cAt	p.R3344H		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3344					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AAACTCTCTACGAATGGTTTT	0.373000													4	163					0	0	0.184627	0	0
CCR2	729230	broad.mit.edu	37	3	46399948	46399948	+	Silent	SNP	G	G	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr3:46399948G>A	ENST00000292301.4	+	2	1415	c.930G>A	c.(928-930)gaG>gaA	p.E310E	CCR2_ENST00000465202.1_3'UTR|CCR2_ENST00000400888.2_Silent_p.E310E|CCR2_ENST00000445132.2_Silent_p.E310E	NM_001123041.2	NP_001116513.2	P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2	310					astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		TCGTTGGGGAGAAGTTCAGAA	0.502000													15	149					0	0	0.539581	0	0
CHST6	4166	broad.mit.edu	37	16	75512968	75512968	+	Silent	SNP	G	G	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr16:75512968G>A	ENST00000332272.4	-	3	938	c.759C>T	c.(757-759)gcC>gcT	p.A253A	CHST6_ENST00000390664.2_Silent_p.A253A|RP11-77K12.4_ENST00000530512.3_RNA	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	253					keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity	p.A253A(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TGGCGGCCTCGGCGATGCGTA	0.716000													22	33					0	0	0.592651	0	0
USP34	9736	broad.mit.edu	37	2	61597495	61597495	+	Silent	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr2:61597495C>T	ENST00000398571.2	-	10	1288	c.1212G>A	c.(1210-1212)ctG>ctA	p.L404L		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	404					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			GTTGAGTACTCAGTCGCCCTT	0.338000													6	198					0	0	0.248553	0	0
SENP6	26054	broad.mit.edu	37	6	76376512	76376512	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr6:76376512G>C	ENST00000370014.3	+	10	1698	c.1079G>C	c.(1078-1080)tGt>tCt	p.C360S	SENP6_ENST00000327284.8_Missense_Mutation_p.C353S|SENP6_ENST00000447266.2_Missense_Mutation_p.C360S|SENP6_ENST00000370010.2_Missense_Mutation_p.C353S	NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	360					proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				GATTCAGCATGTTCTTCCCCT	0.423000													20	87					0	0	0.608945	0	0
FBLIM1	54751	broad.mit.edu	37	1	16096922	16096922	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr1:16096922A>G	ENST00000375766.3	+	6	1200	c.560A>G	c.(559-561)cAc>cGc	p.H187R	FBLIM1_ENST00000441801.2_Missense_Mutation_p.H187R|FBLIM1_ENST00000400773.1_Missense_Mutation_p.H90R|FBLIM1_ENST00000332305.5_Missense_Mutation_p.H90R|FBLIM1_ENST00000375771.1_Missense_Mutation_p.H187R	NM_017556.2	NP_060026.2	Q8WUP2	FBLI1_HUMAN	filamin binding LIM protein 1	187	LIM zinc-binding 1.				cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding	p.H187R(1)		large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	16		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)		GCCTTCTGCCACAAGACCGTG	0.637000													35	50					0	0	0.796494	0	0
HTR1A	3350	broad.mit.edu	37	5	63256897	63256897	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr5:63256897C>T	ENST00000323865.3	-	1	883	c.650G>A	c.(649-651)cGc>cAc	p.R217H	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	217					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	TCGGAATATGCGCCCATAGAG	0.587000													5	186					0	0	0.184627	0	0
ZNF468	90333	broad.mit.edu	37	19	53344519	53344519	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr19:53344519G>C	ENST00000595646.1	-	4	1148	c.1028C>G	c.(1027-1029)gCa>gGa	p.A343G	ZNF468_ENST00000396409.4_Missense_Mutation_p.A290G|ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000243639.4_3'UTR|ZNF468_ENST00000390651.4_Missense_Mutation_p.A290G			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	343					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		AGTATGTTTTGCCAGATATGA	0.378000													5	210					0	0	0.184627	0	0
RAP1GAP	5909	broad.mit.edu	37	1	21924900	21924900	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr1:21924900G>C	ENST00000542643.2	-	24	2252	c.1950C>G	c.(1948-1950)agC>agG	p.S650R	RAP1GAP_ENST00000374763.2_Missense_Mutation_p.S709R|RAP1GAP_ENST00000374761.2_Missense_Mutation_p.S655R|RAP1GAP_ENST00000374765.4_Missense_Mutation_p.S624R|RAP1GAP_ENST00000290101.4_Missense_Mutation_p.S688R	NM_001145657.1	NP_001139129.1	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	624					regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		TACCTGGGGAGCTGCCCCCAC	0.622000													4	91					0	0	0.184627	0	0
LINC00969	440993	broad.mit.edu	37	3	195410640	195410640	+	RNA	SNP	T	T	C	rs6583273	by1000genomes	TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr3:195410640T>C	ENST00000445430.1	+	0	1837																											TTGATGAGTATGATCACTCCA	0.468000													4	42					0	0	0.217242	0	0
SPTAN1	6709	broad.mit.edu	37	9	131370227	131370227	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr9:131370227G>A	ENST00000358161.5	+	33	4356	c.4243G>A	c.(4243-4245)Gag>Aag	p.E1415K	SPTAN1_ENST00000372731.4_Missense_Mutation_p.E1415K|SPTAN1_ENST00000372739.3_Missense_Mutation_p.E1415K			Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1415					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TGCCAGCCCTGAGATCAAGCA	0.547000													7	158					0	0	0.248553	0	0
HCN4	10021	broad.mit.edu	37	15	73622066	73622066	+	Missense_Mutation	SNP	C	C	T	rs121908411		TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr15:73622066C>T	ENST00000261917.3	-	4	2431	c.1438G>A	c.(1438-1440)Ggc>Agc	p.G480S		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	480					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	p.G480S(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		CGCCCGTAGCCGATGCACAGC	0.622000													34	35					0	0	0.788014	0	0
GNA13	10672	broad.mit.edu	37	17	63010430	63010430	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr17:63010430C>A	ENST00000439174.2	-	4	1324	c.1079G>T	c.(1078-1080)cGt>cTt	p.R360L	GNA13_ENST00000541118.1_Missense_Mutation_p.R265L	NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein), alpha 13	360					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex|melanosome	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						CTTCACGTCACGGAAAACAAG	0.443000													3	97					0.004672	0.00499486	0.115264	1	0
FAT4	79633	broad.mit.edu	37	4	126371107	126371107	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr4:126371107A>T	ENST00000394329.3	+	9	8949	c.8936A>T	c.(8935-8937)aAt>aTt	p.N2979I	FAT4_ENST00000335110.5_Missense_Mutation_p.N1277I	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2979	Cadherin 28.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.N2979I(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGTAATGACAATGCACCTCAA	0.343000													37	65					0	0	0.804634	0	0
PRPF4B	8899	broad.mit.edu	37	6	4032653	4032653	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr6:4032653A>G	ENST00000337659.6	+	2	1002	c.902A>G	c.(901-903)aAa>aGa	p.K301R	PRPF4B_ENST00000538861.1_Missense_Mutation_p.K287R	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	301	Arg/Lys-rich (basic).					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity	p.K301R(1)		breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				TTAAGAGGTAAATCCAAAGAC	0.353000													122	30					0	0	0.870114	0	0
HTATSF1	27336	broad.mit.edu	37	X	135581841	135581841	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chrX:135581841G>C	ENST00000535601.1	+	3	693	c.271G>C	c.(271-273)Gat>Cat	p.D91H	HTATSF1_ENST00000218364.4_Missense_Mutation_p.D91H	NM_001163280.1	NP_001156752.1	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	91					regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					AAATGTTGAAGATGTCCATGC	0.443000													9	117					0	0	0.307466	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74492542	74492542	+	Silent	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr1:74492542C>T	ENST00000354431.4	-	8	2021	c.1830G>A	c.(1828-1830)gtG>gtA	p.V610V	LRRIQ3_ENST00000395089.1_Silent_p.V610V	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	610								p.V610V(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						AATTTGTTTTCACAATTGCTA	0.284000													26	38					0	0	0.667858	0	0
PAPPA	5069	broad.mit.edu	37	9	118949729	118949729	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr9:118949729C>G	ENST00000328252.3	+	2	1081	c.712C>G	c.(712-714)Ctc>Gtc	p.L238V		NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	238					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	p.L238V(1)		NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GTGCAAAGTGCTCATGTTAGG	0.557000													19	155					0	0	0.592651	0	0
JAKMIP3	282973	broad.mit.edu	37	10	133948575	133948575	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr10:133948575C>T	ENST00000298622.4	+	4	1018	c.880C>T	c.(880-882)Cgc>Tgc	p.R294C		NM_001105521.2	NP_001098991.1			Janus kinase and microtubule interacting protein 3									p.R294C(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		AGATGCCCGGCGCTTCCAGCT	0.502000													23	38					0	0	0.667858	0	0
CLN3	1201	broad.mit.edu	37	16	28498849	28498849	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr16:28498849C>T	ENST00000569430.1	-	8	1207	c.388G>A	c.(388-390)Gtc>Atc	p.V130I	CLN3_ENST00000359984.7_Missense_Mutation_p.V130I|CLN3_ENST00000357076.5_Missense_Mutation_p.V130I|CLN3_ENST00000567963.1_Missense_Mutation_p.V130I|CLN3_ENST00000355477.5_Missense_Mutation_p.V130I|CLN3_ENST00000535392.1_Missense_Mutation_p.V52I|CLN3_ENST00000395653.4_Missense_Mutation_p.V30I|CLN3_ENST00000360019.2_Missense_Mutation_p.V130I|CLN3_ENST00000357806.7_Missense_Mutation_p.R103H|CLN3_ENST00000357857.9_Missense_Mutation_p.V76I|CLN3_ENST00000568224.1_Missense_Mutation_p.V52I|CLN3_ENST00000565316.1_Missense_Mutation_p.V130I|CLN3_ENST00000354630.5_Missense_Mutation_p.V130I|CLN3_ENST00000333496.9_Missense_Mutation_p.V106I			Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3	130					amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport	autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network	unfolded protein binding	p.V130I(1)		breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						ATCCCACTGACGAGAACCCGG	0.587000													18	31					0	0	0.539581	0	0
CAT	847	broad.mit.edu	37	11	34470887	34470887	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr11:34470887G>C	ENST00000241052.4	+	2	304	c.215G>C	c.(214-216)aGa>aCa	p.R72T		NM_001752.3	NP_001743.1	P04040	CATA_HUMAN	catalase	72					hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection	peroxisomal matrix|peroxisomal membrane	catalase activity|heme binding|NADP binding|protein homodimerization activity			breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	ATTCCTGAGAGAGTTGTGCAT	0.438000													13	162					0	0	0.557998	0	0
C17orf75	64149	broad.mit.edu	37	17	30668260	30668260	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr17:30668260C>T	ENST00000577809.1	-	2	233	c.184G>A	c.(184-186)Ggc>Agc	p.G62S	RP11-227G15.3_ENST00000581915.1_RNA|C17orf75_ENST00000225805.4_Missense_Mutation_p.G62S	NM_022344.3	NP_071739.2	Q9HAS0	NJMU_HUMAN	chromosome 17 open reading frame 75	62					spermatogenesis					ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			GCATTTGTGCCACTTGGGCTT	0.463000													8	241					0	0	0.278610	0	0
TMPRSS7	344805	broad.mit.edu	37	3	111769615	111769615	+	Silent	SNP	T	T	C			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr3:111769615T>C	ENST00000452346.2	+	9	1191	c.1188T>C	c.(1186-1188)tgT>tgC	p.C396C	TMPRSS7_ENST00000419127.1_Silent_p.C270C			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	396	CUB 2.				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity	p.C125C(1)		breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						AATGCAAGTGTACCTGGAAAT	0.353000													111	560					0	0	0.870114	0	0
ZNF136	7695	broad.mit.edu	37	19	12296616	12296616	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr19:12296616A>G	ENST00000343979.4	+	2	160	c.20A>G	c.(19-21)gAg>gGg	p.E7G	ZNF136_ENST00000398616.2_Intron	NM_003437.3	NP_003428.1	P52737	ZN136_HUMAN	zinc finger protein 136	7	KRAB.				negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						GTGGCTTTTGAGGATGTAGAT	0.483000													3	99					0	0	0.115264	0	0
CTSL3P	392360	broad.mit.edu	37	9	90388098	90388098	+	RNA	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr9:90388098C>T	ENST00000354530.2	+	0	169					NR_027917.1																						ACCTCTGCTTCATGACATCCG	0.493000													6	136					0	0	0.248553	0	0
ITIH5	80760	broad.mit.edu	37	10	7605143	7605143	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr10:7605143G>A	ENST00000256861.6	-	14	2810	c.2732C>T	c.(2731-2733)gCc>gTc	p.A911V	ITIH5_ENST00000446830.2_Missense_Mutation_p.A693V|ITIH5_ENST00000298441.6_Missense_Mutation_p.A697V|ITIH5_ENST00000397146.2_Intron	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	911					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CAGTTTGGCGGCATTGTTCCT	0.522000													4	216					0	0	0.184627	0	0
EIF2S1	1965	broad.mit.edu	37	14	67831504	67831504	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr14:67831504G>C	ENST00000256383.4	+	2	481	c.20G>C	c.(19-21)aGa>aCa	p.R7T	EIF2S1_ENST00000466499.2_Missense_Mutation_p.R7T	NM_004094.4	NP_004085.1	P05198	IF2A_HUMAN	eukaryotic translation initiation factor 2, subunit 1 alpha, 35kDa	7						cytosol|eukaryotic translation initiation factor 2 complex|polysome|stress granule	protein binding|ribosome binding|translation initiation factor activity			breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9				all cancers(60;0.000683)|OV - Ovarian serous cystadenocarcinoma(108;0.00579)|BRCA - Breast invasive adenocarcinoma(234;0.00937)		ctaagttgtagattttatcaa	0.363000													3	151					0	0	0.115264	0	0
HSPH1	10808	broad.mit.edu	37	13	31712628	31712628	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr13:31712628C>G	ENST00000320027.5	-	17	2630	c.2286G>C	c.(2284-2286)atG>atC	p.M762I	HSPH1_ENST00000380406.5_Missense_Mutation_p.M721I|HSPH1_ENST00000380405.4_Missense_Mutation_p.M718I|HSPH1_ENST00000445273.2_Missense_Mutation_p.M764I|HSPH1_ENST00000429785.2_Missense_Mutation_p.M581I	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	762					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		TGACATTATTCATCCATTCCA	0.358000													6	234					0	0	0.248553	0	0
TMEM234	56063	broad.mit.edu	37	1	32682796	32682796	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr1:32682796G>A	ENST00000373593.1	-	4	412	c.392C>T	c.(391-393)tCc>tTc	p.S131F	TMEM234_ENST00000344461.3_Intron|TMEM234_ENST00000545122.1_Intron|TMEM234_ENST00000309777.6_Intron|TMEM234_ENST00000485689.1_Intron			Q8WY98	TM234_HUMAN	transmembrane protein 234	0						integral to membrane				kidney(2)|lung(3)	5						TTCTGGGAAGGAACTAACACA	0.532000													16	22					0	0	0.500413	0	0
SETDB1	9869	broad.mit.edu	37	1	150917632	150917632	+	Silent	SNP	A	A	G	rs13375831	by1000genomes	TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr1:150917632A>G	ENST00000368962.2	+	9	1314	c.1188A>G	c.(1186-1188)ggA>ggG	p.G396G	SETDB1_ENST00000271640.5_Intron|SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000368969.4_Intron	NM_001243491.1	NP_001230420.1	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	0	Tudor 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			GTGGGGGGGGAACTTAAGAAG	0.453000													17	18					0	0	0.500413	0	0
CDH5	1003	broad.mit.edu	37	16	66430060	66430060	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr16:66430060C>T	ENST00000341529.3	+	8	1464	c.1316C>T	c.(1315-1317)cCc>cTc	p.P439L	CDH5_ENST00000539168.1_5'UTR	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	439	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		GAAGTCTACCCCTGGTATAAC	0.498000													39	78					0	0	0.804634	0	0
ACSS3	79611	broad.mit.edu	37	12	81532986	81532986	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr12:81532986C>A	ENST00000548058.1	+	4	1632	c.722C>A	c.(721-723)gCg>gAg	p.A241E	ACSS3_ENST00000261206.3_Missense_Mutation_p.A240E			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	241						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						GTAGAAGAAGCGCTAAAAATA	0.353000													48	69					2.29192e-23	2.72748e-23	0.870114	1	0
CDH10	1008	broad.mit.edu	37	5	24511507	24511507	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr5:24511507C>A	ENST00000264463.4	-	6	1438	c.931G>T	c.(931-933)Ggt>Tgt	p.G311C		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	311	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GTACCGTCACCATCAATAATT	0.433000										HNSCC(23;0.051)			87	161					1.79992e-35	2.18147e-35	0.870114	1	0
MUC4	4585	broad.mit.edu	37	3	195517519	195517519	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr3:195517519G>C	ENST00000463781.3	-	2	1391	c.932C>G	c.(931-933)tCa>tGa	p.S311*	MUC4_ENST00000475231.1_Nonsense_Mutation_p.S311*|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	316					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGAAGTCCTTGAGAAAGTTGC	0.473000													6	606					0	0	0.217242	0	0
NFATC3	4775	broad.mit.edu	37	16	68224779	68224779	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr16:68224779C>T	ENST00000349223.5	+	9	2431	c.2207C>T	c.(2206-2208)tCa>tTa	p.S736L	NFATC3_ENST00000329524.4_Missense_Mutation_p.S736L|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000346183.3_Missense_Mutation_p.S736L|NFATC3_ENST00000575270.1_Missense_Mutation_p.S736L	NM_173163.2	NP_775186.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	736					inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		TCAGGGTGTTCACATGACAGT	0.478000													9	137					0	0	0.307466	0	0
WNK1	65125	broad.mit.edu	37	12	1009828	1009828	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr12:1009828C>A	ENST00000537687.1	+	26	8058	c.7415C>A	c.(7414-7416)cCa>cAa	p.P2472Q	WNK1_ENST00000535572.1_Missense_Mutation_p.P1964Q|WNK1_ENST00000530271.2_Missense_Mutation_p.P2710Q|WNK1_ENST00000315939.6_Missense_Mutation_p.P2212Q|WNK1_ENST00000340908.4_Missense_Mutation_p.P1805Q	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	2212					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	p.P2212Q(1)|p.P2472Q(1)		breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CTTTCTGCTCCAGGTCAAGGT	0.473000													6	527					0.0293803	0.0312835	0.248553	1	0
FBLIM1	54751	broad.mit.edu	37	1	16097009	16097009	+	Missense_Mutation	SNP	G	G	A	rs138675454		TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr1:16097009G>A	ENST00000375766.3	+	6	1287	c.647G>A	c.(646-648)cGc>cAc	p.R216H	FBLIM1_ENST00000441801.2_Missense_Mutation_p.R216H|FBLIM1_ENST00000400773.1_Missense_Mutation_p.R119H|FBLIM1_ENST00000332305.5_Missense_Mutation_p.R119H|FBLIM1_ENST00000375771.1_Missense_Mutation_p.R216H	NM_017556.2	NP_060026.2	Q8WUP2	FBLI1_HUMAN	filamin binding LIM protein 1	216	LIM zinc-binding 1.				cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding	p.R216H(2)		large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	16		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)		ACCTGCCGCCGCCAGCTGGCT	0.647000													22	51					0	0	0.681144	0	0
CDR2L	30850	broad.mit.edu	37	17	72999894	72999894	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr17:72999894C>T	ENST00000337231.5	+	5	1535	c.1123C>T	c.(1123-1125)Cgg>Tgg	p.R375W		NM_014603.2	NP_055418.2	Q86X02	CDR2L_HUMAN	cerebellar degeneration-related protein 2-like	375												all_lung(278;0.226)					GAGCAAGTGCCGGCAGCACGG	0.711000													3	0					0	0	0.115264	0	0
RBFA	79863	broad.mit.edu	37	18	77806105	77806105	+	Missense_Mutation	SNP	G	G	A	rs138311529		TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr18:77806105G>A	ENST00000306735.5	+	7	1120	c.982G>A	c.(982-984)Gga>Aga	p.G328R	RBFADN_ENST00000569722.1_Intron|RBFA_ENST00000262197.7_3'UTR	NM_024805.2	NP_079081.2	Q8N0V3	RBFA_HUMAN	ribosome binding factor A (putative)	328					rRNA processing	mitochondrion				endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						GGCAGAGAGAGGAGGTGGCAG	0.587000													3	49					0	0	0.115264	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121653325	121653325	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr7:121653325G>T	ENST00000393386.2	+	12	4636	c.4225G>T	c.(4225-4227)Gat>Tat	p.D1409Y	PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_3'UTR	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1409					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	p.D1409Y(2)		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						TGCCAAATCTGATGCCGGTTT	0.448000													68	89					1.84395e-34	2.21443e-34	0.870114	1	0
NLRP2	55655	broad.mit.edu	37	19	55494891	55494891	+	Silent	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr19:55494891C>T	ENST00000543010.1	+	6	1968	c.1825C>T	c.(1825-1827)Ctg>Ttg	p.L609L	NLRP2_ENST00000448584.2_Silent_p.L609L|NLRP2_ENST00000263437.6_Silent_p.L606L|NLRP2_ENST00000427260.2_Silent_p.L586L|NLRP2_ENST00000537859.1_Silent_p.L587L|NLRP2_ENST00000391721.4_Silent_p.L585L|NLRP2_ENST00000339757.7_Silent_p.L587L|NLRP2_ENST00000538819.1_Silent_p.L585L	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	609					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CCTCGGCTGTCTGTACGAGTC	0.507000													3	33					0	0	0.150653	0	0
NBEA	26960	broad.mit.edu	37	13	36241642	36241642	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr13:36241642C>T	ENST00000540320.1	+	56	9067	c.8533C>T	c.(8533-8535)Cga>Tga	p.R2845*	NBEA_ENST00000379922.3_Nonsense_Mutation_p.R423*|NBEA_ENST00000400445.3_Nonsense_Mutation_p.R2845*|NBEA_ENST00000379939.2_Nonsense_Mutation_p.R2842*|NBEA_ENST00000310336.4_Nonsense_Mutation_p.R2845*|NBEA_ENST00000537702.1_Nonsense_Mutation_p.R638*			Q8NFP9	NBEA_HUMAN	neurobeachin	2845						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	p.R2845*(1)		NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TGAACGAGGGCGATTCAGTAA	0.428000													28	185					0	0	0.760397	0	0
SDHA	6389	broad.mit.edu	37	5	233625	233625	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr5:233625G>A	ENST00000264932.6	+	8	1044	c.929G>A	c.(928-930)gGa>gAa	p.G310E	SDHA_ENST00000504309.1_Missense_Mutation_p.G310E|SDHA_ENST00000510361.1_Missense_Mutation_p.G262E	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	310					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity	p.G310E(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	ATTACGGAAGGATGTCGTGGA	0.438000									Familial Paragangliomas				93	150					0	0	0.870114	0	0
ZNF471	57573	broad.mit.edu	37	19	57037187	57037187	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr19:57037187C>T	ENST00000308031.5	+	5	1884	c.1751C>T	c.(1750-1752)tCa>tTa	p.S584L	ZNF471_ENST00000591537.1_3'UTR|ZNF471_ENST00000593197.1_3'UTR	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	584					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		AGTGATAGCTCATCCTGTGCT	0.413000													16	105					0	0	0.479597	0	0
FOXP2	93986	broad.mit.edu	37	7	114299704	114299704	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr7:114299704C>G	ENST00000408937.3	+	14	2072	c.1698C>G	c.(1696-1698)ttC>ttG	p.F566L	FOXP2_ENST00000393494.2_Missense_Mutation_p.F541L|FOXP2_ENST00000393498.2_Missense_Mutation_p.F520L|FOXP2_ENST00000393491.3_Missense_Mutation_p.F356L|FOXP2_ENST00000350908.4_Missense_Mutation_p.F541L|FOXP2_ENST00000393500.3_3'UTR|FOXP2_ENST00000393489.3_Missense_Mutation_p.F449L|FOXP2_ENST00000403559.4_Missense_Mutation_p.F558L	NM_001172766.2|NM_014491.3|NM_148898.3	NP_001166237.1|NP_055306.1|NP_683696.2	O15409	FOXP2_HUMAN	forkhead box P2	541					camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						TTGCTTACTTCAGGCGTAATG	0.393000													4	127					0	0	0.184627	0	0
SFI1	9814	broad.mit.edu	37	22	32007798	32007798	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr22:32007798G>A	ENST00000432498.1	+	23	2762	c.2369G>A	c.(2368-2370)cGg>cAg	p.R790Q	SFI1_ENST00000540643.1_Missense_Mutation_p.R766Q|SFI1_ENST00000443011.1_Missense_Mutation_p.R668Q|SFI1_ENST00000414585.1_Missense_Mutation_p.R668Q|SFI1_ENST00000400288.2_Missense_Mutation_p.R821Q|SFI1_ENST00000443326.1_Missense_Mutation_p.R739Q|SFI1_ENST00000400289.1_Missense_Mutation_p.R739Q	NM_014775.3	NP_055590.2	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	821					G2/M transition of mitotic cell cycle	centriole|cytosol		p.R821Q(1)		NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						AGACTCAGCCGGACCTGCTTC	0.617000													21	31					0	0	0.729181	0	0
ZNF711	7552	broad.mit.edu	37	X	84502625	84502625	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chrX:84502625G>T	ENST00000360700.4	+	3	933	c.47G>T	c.(46-48)aGa>aTa	p.R16I	ZNF711_ENST00000373165.3_Missense_Mutation_p.R16I|ZNF711_ENST00000276123.3_Missense_Mutation_p.R16I|ZNF711_ENST00000395402.1_5'UTR			Q9Y462	ZN711_HUMAN	zinc finger protein 711	16					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						CCAGACTCTAGAATGGCCCAT	0.333000													20	101					4.35082e-09	4.95353e-09	0.592651	1	0
LILRA3	11026	broad.mit.edu	37	19	54803659	54803659	+	Silent	SNP	C	C	T	rs138979811	byFrequency	TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr19:54803659C>T	ENST00000391745.1	-	7	532	c.216G>A	c.(214-216)acG>acA	p.T72T	LILRA3_ENST00000251390.3_Silent_p.T55T|LILRA3_ENST00000391744.3_Silent_p.T55T					leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3											NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGTACTCCTGCGTCTCCAGGC	0.567000													11	97					0	0	0.411799	0	0
SDHAP1	255812	broad.mit.edu	37	3	195711466	195711466	+	RNA	SNP	G	G	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr3:195711466G>T	ENST00000427841.1	-	0	481					NR_003264.2																						GCCCATCACCGCGACCATGGC	0.582000													5	225					0.184627	0.19042	0.184627	1	0
PDGFC	56034	broad.mit.edu	37	4	157771474	157771474	+	Silent	SNP	C	C	G			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr4:157771474C>G	ENST00000502773.1	-	2	703	c.213G>C	c.(211-213)acG>acC	p.T71T	PDGFC_ENST00000541126.1_Intron|PDGFC_ENST00000422544.2_Silent_p.T71T	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C	71	CUB.				central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity	p.T71T(1)		central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		ATACCAAGACCGTATTTCTTG	0.388000													41	67					0	0	0.834066	0	0
TRIM24	8805	broad.mit.edu	37	7	138210029	138210029	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr7:138210029A>G	ENST00000343526.4	+	5	1023	c.808A>G	c.(808-810)Ata>Gta	p.I270V	TRIM24_ENST00000497516.1_3'UTR|TRIM24_ENST00000415680.2_Missense_Mutation_p.I270V			O15164	TIF1A_HUMAN	tripartite motif containing 24	270					cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding	p.I270V(2)		breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						GAAAGTGATCATAGATACACT	0.269000													11	33					0	0	0.411799	0	0
CES1P1	51716	broad.mit.edu	37	16	55803969	55803969	+	RNA	SNP	G	G	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr16:55803969G>A	ENST00000571348.1	+	0	544					NR_003276.2																						TGGTGGTGGTGACCATTCAAT	0.582000													5	27					0	0	0.217242	0	0
KRTAP12-4	386684	broad.mit.edu	37	21	46074247	46074247	+	Silent	SNP	G	G	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr21:46074247G>A	ENST00000391618.1	-	1	329	c.285C>T	c.(283-285)ttC>ttT	p.F95F	TSPEAR_ENST00000323084.4_Intron	NM_198698.1	NP_941971.1	P60329	KR124_HUMAN	keratin associated protein 12-4	95	15 X 5 AA approximate repeats.					keratin filament				lung(4)|ovary(1)|prostate(1)	6						GGGTGGGGCAGAAGGGCTGGC	0.632000													4	100					0	0	0.184627	0	0
CDC40	51362	broad.mit.edu	37	6	110530349	110530349	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr6:110530349G>T	ENST00000368932.1	+	6	654	c.553G>T	c.(553-555)Gat>Tat	p.D185Y	CDC40_ENST00000368930.1_Missense_Mutation_p.D185Y|CDC40_ENST00000368933.1_Missense_Mutation_p.D185Y|CDC40_ENST00000307731.1_Missense_Mutation_p.D185Y			O60508	PRP17_HUMAN	cell division cycle 40	185					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)		TAAAGAAAATGATGCATCCAA	0.299000													6	70					5.9392e-07	6.59076e-07	0.217242	1	0
LGALS4	3960	broad.mit.edu	37	19	39297125	39297125	+	Silent	SNP	G	G	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr19:39297125G>A	ENST00000307751.4	-	4	927	c.450C>T	c.(448-450)atC>atT	p.I150I	LGALS4_ENST00000597803.1_5'UTR	NM_006149.3	NP_006140.1	P56470	LEG4_HUMAN	lectin, galactoside-binding, soluble, 4	150	Galectin 1.				cell adhesion	cytosol|plasma membrane	sugar binding			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			GCTGGCCTCCGATGAAGTTGA	0.498000													7	137					0	0	0.248553	0	0
C1orf162	128346	broad.mit.edu	37	1	112020686	112020686	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr1:112020686G>A	ENST00000343534.5	+	6	659	c.409G>A	c.(409-411)Gag>Aag	p.E137K	C1orf162_ENST00000369718.3_Missense_Mutation_p.E112K|C1orf162_ENST00000464591.1_3'UTR	NM_174896.2	NP_777556.1	Q8NEQ5	CA162_HUMAN	chromosome 1 open reading frame 162	137						integral to membrane				NS(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5		all_cancers(81;0.00116)|all_epithelial(167;0.000761)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0236)|Colorectal(144;0.0286)|all cancers(265;0.0572)|Epithelial(280;0.0862)|COAD - Colon adenocarcinoma(174;0.112)|LUSC - Lung squamous cell carcinoma(189;0.134)		TCACTTGGCTGAGAACCATTC	0.428000													6	151					0	0	0.217242	0	0
TRIM37	4591	broad.mit.edu	37	17	57165711	57165711	+	Silent	SNP	T	T	C			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr17:57165711T>C	ENST00000262294.7	-	4	481	c.222A>G	c.(220-222)caA>caG	p.Q74Q	TRIM37_ENST00000393065.2_Silent_p.Q40Q|TRIM37_ENST00000584889.1_Silent_p.Q74Q|TRIM37_ENST00000393066.3_Silent_p.Q74Q|TRIM37_ENST00000376149.3_5'UTR	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37	74						perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding	p.Q74Q(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TATCAAGCTGTTGTGTTACTT	0.383000									Mulibrey Nanism				22	29					0	0	0.639603	0	0
RSRC1	51319	broad.mit.edu	37	3	157921018	157921018	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr3:157921018C>T	ENST00000295930.3	+	4	640	c.478C>T	c.(478-480)Cat>Tat	p.H160Y	RSRC1_ENST00000496268.1_3'UTR|RSRC1_ENST00000480820.1_Missense_Mutation_p.H160Y|RSRC1_ENST00000475278.2_Missense_Mutation_p.H160Y|RSRC1_ENST00000464171.1_Intron|RSRC1_ENST00000312179.6_Intron	NM_001271838.1|NM_016625.2	NP_001258767.1|NP_057709.2	Q96IZ7	RSRC1_HUMAN	arginine/serine-rich coiled-coil 1	160					nucleocytoplasmic transport	cytoplasm|nuclear speck	protein binding	p.H160Y(1)		cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18			Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)			caaggaATTACATAACATCAA	0.413000													33	10					0	0	0.740014	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77465305	77465305	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr16:77465305C>G	ENST00000282849.5	-	3	800	c.382G>C	c.(382-384)Gga>Cga	p.G128R	ADAMTS18_ENST00000567121.1_5'UTR	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	128					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CCATCTTTTCCAAGTACCTGG	0.473000													4	205					0	0	0.150653	0	0
ACSM3	6296	broad.mit.edu	37	16	20808211	20808211	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr16:20808211G>C	ENST00000289416.5	+	14	2153	c.1678G>C	c.(1678-1680)Gaa>Caa	p.E560Q	ERI2_ENST00000300005.3_Intron|ACSM3_ENST00000567387.1_3'UTR|ERI2_ENST00000564349.1_3'UTR|ACSM3_ENST00000450120.2_Missense_Mutation_p.E552Q|ERI2_ENST00000569729.1_3'UTR|ERI2_ENST00000357967.4_3'UTR	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3	560					regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						CCAACAGGTAGAATTTATTCA	0.323000													3	91					0	0	0.115264	0	0
PYGL	5836	broad.mit.edu	37	14	51398432	51398432	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr14:51398432C>T	ENST00000216392.7	-	4	819	c.487G>A	c.(487-489)Gaa>Aaa	p.E163K	PYGL_ENST00000544180.2_Missense_Mutation_p.E129K|PYGL_ENST00000532462.1_Missense_Mutation_p.E163K	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	163					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	ATCCCATATTCATACCGAATG	0.438000													4	200					0	0	0.184627	0	0
UROD	7389	broad.mit.edu	37	1	45481099	45481099	+	Missense_Mutation	SNP	A	A	G	rs142869188		TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr1:45481099A>G	ENST00000246337.4	+	10	1152	c.1033A>G	c.(1033-1035)Atg>Gtg	p.M345V	UROD_ENST00000494399.1_3'UTR	NM_000374.4	NP_000365.3	P06132	DCUP_HUMAN	uroporphyrinogen decarboxylase	345						cytosol|microtubule cytoskeleton|nucleus	uroporphyrinogen decarboxylase activity	p.M345V(1)		endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4	Acute lymphoblastic leukemia(166;0.155)					TTATCCTGACATGGACCCAGA	0.527000									Porphyria Cutanea Tarda, Type II				43	54					0	0	0.870114	0	0
MAN2A2	4122	broad.mit.edu	37	15	91454654	91454654	+	Silent	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr15:91454654C>T	ENST00000360468.3	+	13	2001	c.1983C>T	c.(1981-1983)ttC>ttT	p.F661F	MAN2A2_ENST00000431652.2_Silent_p.F169F|MAN2A2_ENST00000559717.1_Silent_p.F661F	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	661					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	p.F661F(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			AGGAGCGATTCAGCATGGTGT	0.627000													36	102					0	0	0.847076	0	0
EPAS1	2034	broad.mit.edu	37	2	46583923	46583923	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr2:46583923C>T	ENST00000263734.3	+	4	940	c.430C>T	c.(430-432)Cgt>Tgt	p.R144C		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	144	PAS 1.				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding	p.R144C(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			TGAGGAGATTCGTGAGAACCT	0.448000													46	63					0	0	0.870114	0	0
SAMD9L	219285	broad.mit.edu	37	7	92764127	92764127	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr7:92764127C>A	ENST00000318238.4	-	5	2374	c.1158G>T	c.(1156-1158)atG>atT	p.M386I	SAMD9L_ENST00000411955.1_Missense_Mutation_p.M386I|SAMD9L_ENST00000437805.1_Missense_Mutation_p.M386I	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	386										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TCATTGCCTTCATTCCATACT	0.393000													34	349					2.85442e-18	3.3365e-18	0.750413	1	0
CXXC1	30827	broad.mit.edu	37	18	47812188	47812188	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr18:47812188C>T	ENST00000285106.6	-	5	1284	c.570G>A	c.(568-570)atG>atA	p.M190I	CXXC1_ENST00000412036.2_Missense_Mutation_p.M190I|CXXC1_ENST00000589940.1_Missense_Mutation_p.M190I	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	190					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding	p.M190I(1)		autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						CGAACTTCTTCATGTCCCGAC	0.622000													61	104					0	0	0.870114	0	0
ACTG2	72	broad.mit.edu	37	2	74129548	74129548	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr2:74129548G>T	ENST00000409624.1	+	4	831	c.188G>T	c.(187-189)cGa>cTa	p.R63L	ACTG2_ENST00000345517.3_Missense_Mutation_p.R63L|ACTG2_ENST00000409918.1_Missense_Mutation_p.R63L|ACTG2_ENST00000409731.3_Intron			P63267	ACTH_HUMAN	actin, gamma 2, smooth muscle, enteric	63					muscle contraction	cytoskeleton|cytosol	ATP binding			large_intestine(3)|lung(14)|skin(1)	18						CAGAGCAAGCGAGGGATCCTA	0.483000													30	46					2.4375e-19	2.86188e-19	0.717897	1	0
MAST2	23139	broad.mit.edu	37	1	46471917	46471917	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr1:46471917C>G	ENST00000361297.2	+	8	1035	c.752C>G	c.(751-753)tCa>tGa	p.S251*	MAST2_ENST00000372009.2_Nonsense_Mutation_p.S251*|MAST2_ENST00000372008.1_Nonsense_Mutation_p.S136*	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase 2	251					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					CTCTAGTCATCATGCTCCTCA	0.478000													7	282					0	0	0.248553	0	0
ZNF16	7564	broad.mit.edu	37	8	146157609	146157609	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr8:146157609C>G	ENST00000276816.4	-	4	750	c.564G>C	c.(562-564)caG>caC	p.Q188H	ZNF16_ENST00000394909.2_Missense_Mutation_p.Q188H	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	188					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		GCTGGAAACTCTGGCCACCCA	0.493000													28	260					0	0	0.693898	0	0
PACSIN2	11252	broad.mit.edu	37	22	43275154	43275154	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr22:43275154G>A	ENST00000263246.3	-	8	1129	c.928C>T	c.(928-930)Cga>Tga	p.R310*	PACSIN2_ENST00000402229.1_Nonsense_Mutation_p.R310*|PACSIN2_ENST00000496919.1_5'UTR|PACSIN2_ENST00000403744.3_Nonsense_Mutation_p.R310*|PACSIN2_ENST00000407585.1_Nonsense_Mutation_p.R310*|PACSIN2_ENST00000337959.4_Nonsense_Mutation_p.R310*	NM_001184970.1	NP_001171899.1	Q9UNF0	PACN2_HUMAN	protein kinase C and casein kinase substrate in neurons 2	310					actin cytoskeleton organization|endocytosis	cytoplasmic membrane-bounded vesicle	transporter activity			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	19		Glioma(61;0.222)				CTGAGGGTTCGATTCAGGTCT	0.592000													5	101					0	0	0.217242	0	0
SNX8	29886	broad.mit.edu	37	7	2303947	2303947	+	Missense_Mutation	SNP	G	G	T	rs150793236	byFrequency	TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr7:2303947G>T	ENST00000222990.3	-	6	810	c.768C>A	c.(766-768)ttC>ttA	p.F256L		NM_013321.2	NP_037453.1	Q9Y5X2	SNX8_HUMAN	sorting nexin 8	256					cell communication|early endosome to Golgi transport|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(2)|skin(3)	26		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		GCTCCTTCCCGAATATGAGAA	0.572000													3	49					0.115264	0.121258	0.115264	1	0
OLFM3	118427	broad.mit.edu	37	1	102312598	102312598	+	Translation_Start_Site	SNP	G	G	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr1:102312598G>A	ENST00000359814.3	-	0	2				OLFM3_ENST00000462354.1_Intron|OLFM3_ENST00000370103.4_Intron			Q96PB7	NOE3_HUMAN	olfactomedin 3							extracellular region				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		AGCGGGAGGCGTGACTGCAGC	0.557000													12	28					0	0	0.411799	0	0
RIMS2	9699	broad.mit.edu	37	8	104898340	104898340	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr8:104898340G>A	ENST00000507740.1	+	2	1173	c.937G>A	c.(937-939)Ggt>Agt	p.G313S	RIMS2_ENST00000436393.2_Missense_Mutation_p.G283S|RIMS2_ENST00000406091.3_Missense_Mutation_p.G505S|RIMS2_ENST00000262231.10_Missense_Mutation_p.G313S	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	536					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.G313S(1)|p.G541S(1)|p.G283S(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AAAGAAAGGCGGTAAAATGCG	0.428000										HNSCC(12;0.0054)			34	49					0	0	0.769981	0	0
MAP1S	55201	broad.mit.edu	37	19	17845129	17845129	+	Silent	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr19:17845129C>T	ENST00000324096.4	+	7	3223	c.3072C>T	c.(3070-3072)taC>taT	p.Y1024Y	MAP1S_ENST00000544059.2_Silent_p.Y998Y|CTD-3149D2.4_ENST00000595363.1_RNA	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	1024	Necessary for association with actin (By similarity).|Necessary for interaction with RASSF1 isoform A and isoform C.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding	p.Y1024Y(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						ATACGTGGTACGCAGAGACGC	0.657000													21	52					0	0	0.608945	0	0
NRG4	145957	broad.mit.edu	37	15	76254257	76254257	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr15:76254257T>A	ENST00000394907.3	-	4	344	c.163A>T	c.(163-165)Atc>Ttc	p.I55F	NRG4_ENST00000535975.1_Missense_Mutation_p.I55F	NM_138573.3	NP_612640.1	Q8WWG1	NRG4_HUMAN	neuregulin 4	55						extracellular region|integral to membrane|plasma membrane	growth factor activity	p.I55F(1)		large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	5						TTAGTTTGGATGCTGGAGCCT	0.388000													80	108					0	0	0.870114	0	0
DOT1L	84444	broad.mit.edu	37	19	2213555	2213555	+	Silent	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr19:2213555C>T	ENST00000398665.3	+	17	1611	c.1575C>T	c.(1573-1575)ctC>ctT	p.L525L	AC004490.1_ENST00000585593.1_RNA	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	525						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding	p.L525L(1)		NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGCCCAGCTCCTGGGTGCGG	0.617000													24	21					0	0	0.681144	0	0
C6	729	broad.mit.edu	37	5	41199909	41199909	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr5:41199909C>A	ENST00000263413.3	-	4	670	c.406G>T	c.(406-408)Gaa>Taa	p.E136*	C6_ENST00000337836.5_Nonsense_Mutation_p.E136*	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	136					complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	p.E136*(2)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TCAGCCTCTTCAATTTTGCAG	0.428000													5	154					0.000602214	0.000649108	0.184627	1	0
NSF	4905	broad.mit.edu	37	17	44770362	44770362	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr17:44770362C>G	ENST00000398238.4	+	10	1146	c.1039C>G	c.(1039-1041)Cat>Gat	p.H347D	NSF_ENST00000225282.8_Missense_Mutation_p.H253D|NSF_ENST00000575068.1_Missense_Mutation_p.H342D	NM_006178.3	NP_006169.2	P46459	NSF_HUMAN	N-ethylmaleimide-sensitive factor	347					protein transport|synaptic transmission	cytosol	ATP binding|metal ion binding			kidney(2)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14		Melanoma(429;0.203)	BRCA - Breast invasive adenocarcinoma(9;0.0257)	BRCA - Breast invasive adenocarcinoma(366;0.241)		CACGGGAGTTCATGACACTGT	0.423000													3	106					0	0	0.248553	0	0
OR1N2	138882	broad.mit.edu	37	9	125315718	125315718	+	Silent	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr9:125315718C>T	ENST00000373688.2	+	1	328	c.270C>T	c.(268-270)ttC>ttT	p.F90F		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	90					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						ATGCCTGTTTCACTTCTGCCT	0.483000													13	398					0	0	0.457914	0	0
FARSB	10056	broad.mit.edu	37	2	223499180	223499180	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr2:223499180G>A	ENST00000281828.6	-	6	799	c.536C>T	c.(535-537)tCa>tTa	p.S179L	FARSB_ENST00000536361.1_Missense_Mutation_p.S80L	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	179					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	TTTGATATCTGAAGGACGCTT	0.398000													4	84					0	0	0.184627	0	0
SSTR2	6752	broad.mit.edu	37	17	71166310	71166310	+	Silent	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr17:71166310C>T	ENST00000357585.2	+	2	1221	c.852C>T	c.(850-852)atC>atT	p.I284I	SSTR2_ENST00000315332.2_Silent_p.I284I|RP11-143K11.5_ENST00000580671.1_RNA	NM_001050.2	NP_001041.1	P30874	SSR2_HUMAN	somatostatin receptor 2	284					digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	PDZ domain binding|somatostatin receptor activity			endometrium(2)|large_intestine(5)|lung(2)|prostate(2)	11			LUSC - Lung squamous cell carcinoma(166;0.197)			CCATGGCCATCAGCCCCACCC	0.507000													5	199					0	0	0.217242	0	0
RALGAPB	57148	broad.mit.edu	37	20	37150172	37150172	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr20:37150172C>T	ENST00000262879.6	+	10	1734	c.1450C>T	c.(1450-1452)Cgg>Tgg	p.R484W	RALGAPB_ENST00000397040.1_Missense_Mutation_p.R484W|RALGAPB_ENST00000397038.1_Missense_Mutation_p.R262W|RALGAPB_ENST00000397042.3_Missense_Mutation_p.R484W|RALGAPB_ENST00000537204.1_Intron			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	484					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						GGAGTTTCGACGGAAAGGGTC	0.453000													5	238					0	0	0.248553	0	0
CCDC170	80129	broad.mit.edu	37	6	151894461	151894461	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr6:151894461G>C	ENST00000367290.5	+	6	1016	c.927G>C	c.(925-927)ttG>ttC	p.L309F	CCDC170_ENST00000239374.7_Missense_Mutation_p.L309F			Q8IYT3	CF097_HUMAN	coiled-coil domain containing 170	309																	AGAAGAGTTTGAAGGCCAGTC	0.512000													3	72					0	0	0.150653	0	0
TOMM70A	9868	broad.mit.edu	37	3	100084508	100084508	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr3:100084508T>G	ENST00000284320.5	-	12	2175	c.1727A>C	c.(1726-1728)aAa>aCa	p.K576T		NM_014820.4	NP_055635.3	O94826	TOM70_HUMAN	translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae)	576					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	protein binding|protein transmembrane transporter activity	p.K576T(1)		endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	32						CATTTCCGATTTGGCCAGGTT	0.398000													5	455					0	0	0.217242	0	0
YY2	404281	broad.mit.edu	37	X	21875244	21875244	+	Silent	SNP	G	G	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chrX:21875244G>A	ENST00000429584.2	+	1	1140	c.642G>A	c.(640-642)ttG>ttA	p.L214L	MBTPS2_ENST00000379484.5_Intron|MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000365779.2_Intron	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN	YY2 transcription factor	214					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						CCGAGTACTTGAAAGGGAAGA	0.483000													9	192					0	0	0.335167	0	0
MAML1	9794	broad.mit.edu	37	5	179201801	179201801	+	Silent	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr5:179201801C>T	ENST00000292599.3	+	5	3237	c.2974C>T	c.(2974-2976)Ctg>Ttg	p.L992L	MAML1_ENST00000503050.1_Intron	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	mastermind-like 1 (Drosophila)	992					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACACACCGATCTGATCGACTC	0.557000													5	107					0	0	0.248553	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140711638	140711638	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr5:140711638G>A	ENST00000517417.1	+	1	1387	c.1387G>A	c.(1387-1389)Gaa>Aaa	p.E463K	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.E463K	NM_018912.2	NP_061735.1												p.E463K(2)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTACATTCCCGAAAACAACCC	0.468000													68	123					0	0	0.870114	0	0
TPRG1	285386	broad.mit.edu	37	3	189028237	189028237	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr3:189028237G>A	ENST00000345063.3	+	5	709	c.542G>A	c.(541-543)cGc>cAc	p.R181H	TPRG1_ENST00000433971.1_Missense_Mutation_p.R181H	NM_198485.3	NP_940887.1	Q6ZUI0	TPRG1_HUMAN	tumor protein p63 regulated 1	181										endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1)	16	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)		CTTCTGTCCCGCTGGAACCCA	0.473000													5	416					0	0	0.184627	0	0
AGTPBP1	23287	broad.mit.edu	37	9	88162058	88162058	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr9:88162058G>A	ENST00000357081.3	-	26	3791	c.3647C>T	c.(3646-3648)tCt>tTt	p.S1216F	AGTPBP1_ENST00000376109.3_Missense_Mutation_p.S1228F|AGTPBP1_ENST00000432218.1_3'UTR|AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.S1176F			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	1216					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						TTCAGAGTCAGAAAGTACTTC	0.363000													8	152					0	0	0.278610	0	0
AMPD3	272	broad.mit.edu	37	11	10516545	10516545	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr11:10516545C>G	ENST00000444303.2	+	7	1229	c.757C>G	c.(757-759)Ctg>Gtg	p.L253V	AMPD3_ENST00000396554.3_Missense_Mutation_p.L421V	NM_001172431.1	NP_001165902.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	412					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		TGAAAACTATCTGGGAGGAGA	0.537000													5	243					0	0	0.248553	0	0
TXK	7294	broad.mit.edu	37	4	48096216	48096216	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr4:48096216G>A	ENST00000264316.4	-	8	672	c.587C>T	c.(586-588)aCg>aTg	p.T196M	TXK_ENST00000510457.1_5'UTR	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	196	SH2.					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						GGCAGCCTCCGTACTTCTACA	0.373000													8	58					0	0	0.278610	0	0
C5orf58	133874	broad.mit.edu	37	5	169673114	169673114	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr5:169673114C>G	ENST00000521850.1	+	3	1995	c.306C>G	c.(304-306)atC>atG	p.I102M	C5orf58_ENST00000517575.1_Intron|C5orf58_ENST00000593851.1_Missense_Mutation_p.I102M			C9J3I9	CE058_HUMAN	chromosome 5 open reading frame 58	102										large_intestine(1)|lung(4)|urinary_tract(1)	6						GTTTTTCTATCTGATTTCTTA	0.294000													3	75					0	0	0.115264	0	0
EPHB1	2047	broad.mit.edu	37	3	134644682	134644682	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr3:134644682C>A	ENST00000398015.3	+	2	453	c.83C>A	c.(82-84)gCt>gAt	p.A28D	EPHB1_ENST00000488154.1_3'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	28						integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						ACCAGAACGGCTACTGCAGAG	0.458000													3	29					6.4e-05	6.95537e-05	0.115264	1	0
PLD2	5338	broad.mit.edu	37	17	4713248	4713248	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr17:4713248G>A	ENST00000263088.6	+	9	915	c.784G>A	c.(784-786)Gac>Aac	p.D262N	PLD2_ENST00000572940.1_Missense_Mutation_p.D262N	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	262	PH.				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	TCAGCTCTTTGACCCTGGCTT	0.592000													5	148					0	0	0.184627	0	0
KMT2D	8085	broad.mit.edu	37	12	49443899	49443899	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr12:49443899C>A	ENST00000301067.7	-	11	3471	c.3472G>T	c.(3472-3474)Gag>Tag	p.E1158*		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D									p.E885*(2)|p.E1158*(1)									GCCAGCTCCTCGGGGTCCAGG	0.602000													47	87					2.0833e-19	2.45699e-19	0.870114	1	0
PLK3	1263	broad.mit.edu	37	1	45271192	45271192	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr1:45271192C>A	ENST00000372201.4	+	15	2022	c.1783C>A	c.(1783-1785)Ctc>Atc	p.L595I	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	595	POLO box 2.					membrane	ATP binding|protein binding|protein serine/threonine kinase activity	p.L556I(1)		endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					CAAGCTGATTCTCAGTGGCTG	0.597000													173	217					1.49245e-95	1.8172e-95	0.870114	1	0
GRIP1	23426	broad.mit.edu	37	12	66742828	66742828	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr12:66742828C>T	ENST00000359742.4	-	25	3598	c.3358G>A	c.(3358-3360)Gag>Aag	p.E1120K	GRIP1_ENST00000286445.7_Missense_Mutation_p.E1105K|GRIP1_ENST00000398016.3_Missense_Mutation_p.E1068K			Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	1120					androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		TCTCGTGTCTCCAAATTACCA	0.408000													29	332					0	0	0.740014	0	0
PRRC2A	7916	broad.mit.edu	37	6	31605326	31605326	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr6:31605326G>A	ENST00000376033.2	+	31	6671	c.6437G>A	c.(6436-6438)cGa>cAa	p.R2146Q	PRRC2A_ENST00000376007.4_Missense_Mutation_p.R2146Q	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	2146						cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CCTGGGTCCCGAGGGGACAAG	0.632000													6	84					0	0	0.248553	0	0
TRIOBP	11078	broad.mit.edu	37	22	38155475	38155475	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr22:38155475G>A	ENST00000407319.2	+	8	1247	c.1237G>A	c.(1237-1239)Gag>Aag	p.E413K	RP1-37E16.12_ENST00000455236.1_RNA|TRIOBP_ENST00000403663.2_Intron|TRIOBP_ENST00000406386.3_Intron	NM_138632.2	NP_619538.2	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	0					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					actgagctctgagaggttatg	0.572000													5	178					0	0	0.184627	0	0
KMT2A	4297	broad.mit.edu	37	11	118376147	118376147	+	Silent	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr11:118376147C>T	ENST00000534358.1	+	27	9563	c.9540C>T	c.(9538-9540)atC>atT	p.I3180I	KMT2A_ENST00000389506.5_Silent_p.I3177I|KMT2A_ENST00000354520.4_Silent_p.I3139I	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		CACCAAACATCAGCAATCCTC	0.502000													4	128					0	0	0.150653	0	0
KCNN2	3781	broad.mit.edu	37	5	113699624	113699624	+	Silent	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr5:113699624C>T	ENST00000512097.3	+	3	1526	c.508C>T	c.(508-510)Ctg>Ttg	p.L170L	KCNN2_ENST00000264773.3_Silent_p.L170L|KCNN2_ENST00000507750.1_3'UTR			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	170						integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity	p.L170L(2)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		TTCCTTAGCTCTGAAATGCCT	0.483000													43	84					0	0	0.870114	0	0
DNASE1L2	1775	broad.mit.edu	37	16	2288404	2288404	+	Silent	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr16:2288404C>T	ENST00000564065.1	+	6	1886	c.885C>T	c.(883-885)ctC>ctT	p.L295L	DNASE1L2_ENST00000567494.1_Silent_p.L295L|DNASE1L2_ENST00000382437.4_Silent_p.L274L|DNASE1L2_ENST00000320700.5_Silent_p.L295L			Q92874	DNSL2_HUMAN	deoxyribonuclease I-like 2	295					DNA catabolic process	extracellular region	calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters|protein binding			endometrium(1)|prostate(1)|skin(2)	4						AGGTGACCCTCAAGTTCCACC	0.637000													5	153					0	0	0.184627	0	0
CPA2	1358	broad.mit.edu	37	7	129929571	129929571	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr7:129929571G>C	ENST00000222481.4	+	11	1299	c.1244G>C	c.(1243-1245)cGa>cCa	p.R415P		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	415					proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding	p.R413P(1)|p.R413L(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					GAGCATGTGCGAGACCACCCC	0.517000													33	85					0	0	0.788014	0	0
DHFRL1	200895	broad.mit.edu	37	3	93780144	93780144	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr3:93780144C>T	ENST00000394221.2	-	2	661	c.212G>A	c.(211-213)aGa>aAa	p.R71K	DHFRL1_ENST00000481631.1_Intron|DHFRL1_ENST00000314636.2_Missense_Mutation_p.R71K	NM_001195643.1	NP_001182572.1	Q86XF0	DYRL1_HUMAN	dihydrofolate reductase-like 1	71	DHFR.				glycine biosynthetic process|nucleotide biosynthetic process|one-carbon metabolic process		dihydrofolate reductase activity|NADP binding			kidney(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	8						TAAATTAATTCTATCCTTTAA	0.413000													7	613					0	0	0.278610	0	0
KIAA0391	9692	broad.mit.edu	37	14	35592848	35592848	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr14:35592848G>C	ENST00000557565.1	+	2	778	c.397G>C	c.(397-399)Gaa>Caa	p.E133Q	KIAA0391_ENST00000534898.4_Missense_Mutation_p.E133Q|KIAA0391_ENST00000603588.1_Intron|KIAA0391_ENST00000321130.10_Missense_Mutation_p.E133Q|KIAA0391_ENST00000250377.7_Missense_Mutation_p.E38Q|KIAA0391_ENST00000604948.1_Missense_Mutation_p.E38Q|KIAA0391_ENST00000603544.1_Missense_Mutation_p.E133Q|KIAA0391_ENST00000605870.1_Intron			O15091	MRRP3_HUMAN	KIAA0391	133					tRNA processing	mitochondrion				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		AGATTTAAAAGAAAACACCGG	0.433000													3	102					0	0	0.115264	0	0
PSG7	5676	broad.mit.edu	37	19	43439678	43439678	+	RNA	SNP	G	G	C			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr19:43439678G>C	ENST00000446844.3	-	0	397				PSG7_ENST00000406070.2_RNA			Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				GGATGCATTGGAATATACTGT	0.428000													6	611					0	0	0.217242	0	0
CLSTN2	64084	broad.mit.edu	37	3	140178491	140178491	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr3:140178491G>T	ENST00000458420.3	+	7	1292	c.1102G>T	c.(1102-1104)Gat>Tat	p.D368Y	RP11-68L1.2_ENST00000503357.1_RNA	NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	368					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	p.D368Y(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CAAAGTCCCCGATGGGATTGT	0.577000										HNSCC(16;0.037)			28	150					4.59853e-10	5.28128e-10	0.693898	1	0
ELF1	1997	broad.mit.edu	37	13	41533074	41533074	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr13:41533074G>C	ENST00000239882.3	-	3	465	c.151C>G	c.(151-153)Cta>Gta	p.L51V	ELF1_ENST00000442101.1_Missense_Mutation_p.L51V|ELF1_ENST00000498824.1_5'UTR	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	51					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.L51V(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		ACACAGGCTAGACCGGCATAA	0.453000													42	71					0	0	0.827153	0	0
ZNF544	27300	broad.mit.edu	37	19	58772699	58772699	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr19:58772699G>A	ENST00000269829.4	+	7	1201	c.727G>A	c.(727-729)Gaa>Aaa	p.E243K	ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000600044.1_Missense_Mutation_p.E215K|ZNF544_ENST00000600220.1_Missense_Mutation_p.E215K|CTD-3138B18.5_ENST00000597230.1_RNA|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000599953.1_Missense_Mutation_p.E101K|ZNF544_ENST00000595981.1_Intron|ZNF544_ENST00000596652.1_Missense_Mutation_p.E243K|ZNF544_ENST00000596825.1_3'UTR|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000415203.2_Missense_Mutation_p.E215K	NM_014480.2	NP_055295.2	Q6NX49	ZN544_HUMAN	zinc finger protein 544	243					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		AAACCCTTATGAATATATTGT	0.388000													9	207					0	0	0.307466	0	0
TREML2	79865	broad.mit.edu	37	6	41162432	41162432	+	Silent	SNP	G	G	C			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr6:41162432G>C	ENST00000483722.1	-	3	701	c.516C>G	c.(514-516)ctC>ctG	p.L172L		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	172					T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					GCAAGGTGATGAGTCCTGGGG	0.577000													7	40					0	0	0.248553	0	0
TRIM63	84676	broad.mit.edu	37	1	26392775	26392775	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr1:26392775T>G	ENST00000374272.3	-	2	454	c.316A>C	c.(316-318)Aaa>Caa	p.K106Q	TRIM63_ENST00000483052.1_5'UTR	NM_032588.3	NP_115977.2	Q969Q1	TRI63_HUMAN	tripartite motif containing 63, E3 ubiquitin protein ligase	106	Interaction with TTN.					cytoplasm|microtubule|nucleus	ligase activity|signal transducer activity|titin binding|zinc ion binding			kidney(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;9.15e-26)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000767)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		CACTCCTGTTTGTAGATGTCG	0.622000													3	161					0	0	0.115264	0	0
TROAP	10024	broad.mit.edu	37	12	49719906	49719906	+	Silent	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr12:49719906C>T	ENST00000551245.1	+	6	792	c.681C>T	c.(679-681)ttC>ttT	p.F227F	TROAP_ENST00000257909.3_Silent_p.F227F			Q12815	TROAP_HUMAN	trophinin associated protein	227					cell adhesion	cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						GCCCCAGTTTCCAGGAGCTAA	0.527000													8	243					0	0	0.307466	0	0
PTPRC	5788	broad.mit.edu	37	1	198701643	198701643	+	Silent	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr1:198701643C>T	ENST00000367376.2	+	20	2265	c.2094C>T	c.(2092-2094)aaC>aaT	p.N698N	PTPRC_ENST00000352140.3_Silent_p.N650N|PTPRC_ENST00000348564.6_Silent_p.N539N|PTPRC_ENST00000442510.2_Silent_p.N700N|PTPRC_ENST00000594404.1_Silent_p.N537N	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	698	Tyrosine-protein phosphatase 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	p.N698N(1)		breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						CTGAGATAAACGGAGATGCAG	0.318000													16	27					0	0	0.539581	0	0
THSD7A	221981	broad.mit.edu	37	7	11468681	11468681	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr7:11468681G>A	ENST00000423059.3	-	14	3387	c.3136C>T	c.(3136-3138)Cgc>Tgc	p.R1046C	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1046	TSP type-1 11.					integral to membrane		p.R1046C(1)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TTGCTGCAGCGCGACCAGTTG	0.517000										HNSCC(18;0.044)			110	166					0	0	0.870114	0	0
KIAA1467	57613	broad.mit.edu	37	12	13224219	13224219	+	Silent	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr12:13224219C>T	ENST00000197268.8	+	10	1533	c.1413C>T	c.(1411-1413)taC>taT	p.Y471Y		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	471						integral to membrane				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		TTTGGAGTTACCGTGCTCCGT	0.512000													6	132					0	0	0.217242	0	0
MYT1	4661	broad.mit.edu	37	20	62839236	62839236	+	Silent	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr20:62839236C>T	ENST00000536311.1	+	7	1051	c.687C>T	c.(685-687)acC>acT	p.T229T	MYT1_ENST00000328439.1_Silent_p.T229T|MYT1_ENST00000360149.4_Intron			Q01538	MYT1_HUMAN	myelin transcription factor 1	229	Glu-rich.				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T229T(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					AAGTCACCACCGAGCGCTCCC	0.622000													11	77					0	0	0.361761	0	0
RAB11FIP1	80223	broad.mit.edu	37	8	37729045	37729045	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr8:37729045T>A	ENST00000330843.4	-	4	3287	c.3275A>T	c.(3274-3276)gAc>gTc	p.D1092V	RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	1092					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding	p.D1092V(1)		NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			TACAGGATTGTCCAGGGATGT	0.557000											OREG0018713	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	167	259					0	0	0.870114	0	0
RUFY1	80230	broad.mit.edu	37	5	178987158	178987158	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr5:178987158T>C	ENST00000377001.2	+	2	443	c.443T>C	c.(442-444)tTc>tCc	p.F148S	RUFY1_ENST00000437570.2_Missense_Mutation_p.F40S|RUFY1_ENST00000393438.2_Missense_Mutation_p.F40S|RUFY1_ENST00000319449.4_Missense_Mutation_p.F148S			Q96T51	RUFY1_HUMAN	RUN and FYVE domain containing 1	148	RUN.				endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding	p.F40S(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTGCAGCAGTTCTTTGTAGTG	0.572000										HNSCC(44;0.11)			14	25					0	0	0.500413	0	0
BTLA	151888	broad.mit.edu	37	3	112198449	112198449	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr3:112198449G>T	ENST00000334529.5	-	2	458	c.256C>A	c.(256-258)Caa>Aaa	p.Q86K	BTLA_ENST00000383680.4_Missense_Mutation_p.Q86K	NM_181780.3	NP_861445.3	Q7Z6A9	BTLA_HUMAN	B and T lymphocyte associated	86	Ig-like V-type.				T cell costimulation		receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|large_intestine(1)|lung(5)|prostate(1)	11		Acute lymphoblastic leukemia(4;1.34e-07)|all_hematologic(4;0.000361)				CAACTTGTTTGTCTATCTTCA	0.393000													7	456					0.0477658	0.0504514	0.307466	1	0
CECR1	51816	broad.mit.edu	37	22	17688100	17688100	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr22:17688100G>A	ENST00000399839.1	-	3	673	c.403C>T	c.(403-405)Cac>Tac	p.H135Y	CECR1_ENST00000399837.2_Missense_Mutation_p.H135Y|CECR1_ENST00000449907.2_Missense_Mutation_p.H93Y|CECR1_ENST00000262607.3_Missense_Mutation_p.H135Y			Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	135	PRB domain.				adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				AAACAGATGTGGCAGTGAGGC	0.522000													48	89					0	0	0.870114	0	0
PCNT	5116	broad.mit.edu	37	21	47783638	47783638	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr21:47783638C>G	ENST00000359568.5	+	14	2505	c.2398C>G	c.(2398-2400)Cag>Gag	p.Q800E	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	800					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GAGGCAGCTTCAGGACCAACA	0.522000													3	96					0	0	0.115264	0	0
SPEG	10290	broad.mit.edu	37	2	220338272	220338272	+	Silent	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr2:220338272C>T	ENST00000312358.7	+	17	4326	c.4194C>T	c.(4192-4194)atC>atT	p.I1398I	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1398	Ig-like 7.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	p.I1398I(1)|p.I1398M(1)		breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		AACCAGACATCGTGTATGTGG	0.627000													21	202					0	0	0.608945	0	0
MAN2C1	4123	broad.mit.edu	37	15	75655014	75655014	+	Missense_Mutation	SNP	C	C	T	rs149884810		TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr15:75655014C>T	ENST00000565683.1	-	7	877	c.866G>A	c.(865-867)cGg>cAg	p.R289Q	MAN2C1_ENST00000563622.1_Intron|MAN2C1_ENST00000267978.5_Missense_Mutation_p.R289Q|MAN2C1_ENST00000569482.1_Missense_Mutation_p.R289Q	NM_001256494.1	NP_001243423.1	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	289					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						CTCAGGGTTCCGCTCCATGAG	0.622000													12	54					0	0	0.479597	0	0
ZNF569	148266	broad.mit.edu	37	19	37903739	37903739	+	Silent	SNP	T	T	C			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr19:37903739T>C	ENST00000316950.6	-	6	2378	c.1821A>G	c.(1819-1821)gaA>gaG	p.E607E	ZNF569_ENST00000392149.2_Silent_p.E607E|ZNF569_ENST00000392150.2_Silent_p.E448E	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	607					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E607E(1)		breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATTTATTACATTCATAGGGTT	0.413000													83	149					0	0	0.870114	0	0
LRCH3	84859	broad.mit.edu	37	3	197585712	197585712	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr3:197585712C>T	ENST00000438796.2	+	15	1696	c.1652C>T	c.(1651-1653)tCa>tTa	p.S551L	LRCH3_ENST00000441090.2_Missense_Mutation_p.S397L|LRCH3_ENST00000425562.2_Missense_Mutation_p.S551L|LRCH3_ENST00000414675.2_Intron|LRCH3_ENST00000334859.4_Missense_Mutation_p.S551L|LRCH3_ENST00000536618.1_Missense_Mutation_p.S146L			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	551						extracellular region		p.S551L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		TAGTCGCTGTCAGGGTTGAAT	0.438000													86	415					0	0	0.870114	0	0
MAP9	79884	broad.mit.edu	37	4	156274418	156274418	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr4:156274418C>G	ENST00000311277.4	-	11	1718	c.1455G>C	c.(1453-1455)aaG>aaC	p.K485N	AC097467.2_ENST00000593387.1_RNA|MAP9_ENST00000515654.1_Missense_Mutation_p.K461N|AC097467.2_ENST00000601977.1_RNA|AC097467.2_ENST00000598252.1_RNA|AC097467.2_ENST00000597939.1_RNA	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	485					cell division|mitosis	cytoplasm|microtubule|spindle				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		CAGCTATTTTCTTTGCTTCCT	0.353000													8	119					0	0	0.335167	0	0
SPPL3	121665	broad.mit.edu	37	12	121206202	121206202	+	Silent	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr12:121206202C>T	ENST00000353487.2	-	8	1202	c.699G>A	c.(697-699)cgG>cgA	p.R233R		NM_139015.4	NP_620584.2	Q8TCT6	PSL4_HUMAN	signal peptide peptidase like 3	234						integral to membrane	aspartic-type endopeptidase activity					all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GGTGGAGCTTCCGGGATAGAA	0.542000													6	237					0	0	0.248553	0	0
ADAM20	8748	broad.mit.edu	37	14	70989722	70989722	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr14:70989722G>A	ENST00000256389.3	-	2	2147	c.1903C>T	c.(1903-1905)Cac>Tac	p.H635Y	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	585	EGF-like.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		TCATTGAGGTGAAACTGCTGC	0.443000													6	139					0	0	0.248553	0	0
PRPF4B	8899	broad.mit.edu	37	6	4044117	4044117	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr6:4044117C>T	ENST00000337659.6	+	6	1821	c.1721C>T	c.(1720-1722)aCg>aTg	p.T574M	PRPF4B_ENST00000538861.1_Missense_Mutation_p.T560M	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	574						catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity	p.T574M(1)|p.T63M(1)		breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				CAGAGCAGTACGAGAACACGA	0.418000													60	20					0	0	0.870114	0	0
PAXBP1	94104	broad.mit.edu	37	21	34116017	34116017	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr21:34116017C>T	ENST00000331923.4	-	14	2428	c.2239G>A	c.(2239-2241)Gat>Aat	p.D747N	PAXBP1_ENST00000290178.4_Missense_Mutation_p.D747N	NM_016631.3	NP_057715.2			PAX3 and PAX7 binding protein 1									p.D747N(1)									ATAAATACATCATCATCTAAA	0.289000													11	24					0	0	0.387290	0	0
POFUT2	23275	broad.mit.edu	37	21	46702265	46702265	+	Splice_Site	SNP	G	G	A			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr21:46702265G>A	ENST00000331343.7	-	4	663	c.638_splice	c.e4+1	p.R213_splice	POFUT2_ENST00000349485.5_Splice_Site_p.R213_splice|POFUT2_ENST00000471540.1_5'UTR	NM_015227.4	NP_056042.1	Q9Y2G5	OFUT2_HUMAN	protein O-fucosyltransferase 2	213					fucose metabolic process	endoplasmic reticulum	peptide-O-fucosyltransferase activity	p.R213W(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	20				Colorectal(79;0.243)		GGCACTCACCGGGCTGATGTG	0.667000													41	51					0	0	0.834066	0	0
PRR21	643905	broad.mit.edu	37	2	240982244	240982257	+	Frame_Shift_Del	DEL	TGGATGAAGGGCCA	TGGATGAAGGGCCA	-	rs140532642	byFrequency	TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr2:240982244_240982257delTGGATGAAGGGCCA	ENST00000408934.1	-	1	142_155	c.143_156delTGGCCCTTCATCCA	c.(142-156)afs	p.MALHP48fs		NM_001080835.1	NP_001074304.1	Q8WXC7	PRR21_HUMAN	proline rich 21	48	Pro-rich.							p.H51H(2)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(5)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	29						TGAAGAGCCGTGGATGAAGGGCCATGGGTGAAGA	0.575													8	36	---	---	---	---					
ARHGAP11B	89839	broad.mit.edu	37	15	30918955	30918956	+	Translation_Start_Site	DEL	AT	AT	-			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr15:30918955_30918956delAT	ENST00000428041.2	+	0	77_78					NM_001039841.1	NP_001034930.1	Q3KRB8	RHGBB_HUMAN	Rho GTPase activating protein 11B						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	8		all_lung(180;2.71e-09)|Breast(32;0.00116)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		GCGTTTGGAAATTGGAAGACTT	0.589													18	29	---	---	---	---					
MSLNL	401827	broad.mit.edu	37	16	830765	830766	+	In_Frame_Ins	INS	-	-	CAG			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr16:830765_830766insCAG	ENST00000293892.3	-	3	234_235	c.235_236insCTG	c.(235-237)cac>CTGcac	p.78_79insL	MSLNL_ENST00000442466.1_Intron			Q96KJ4	MSLNL_HUMAN	mesothelin-like	0					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						CGGGTAGGTGACGGTGTGCACG	0.589													8	210	---	---	---	---					
NQO1	1728	broad.mit.edu	37	16	69745185	69745186	+	Splice_Site	INS	-	-	T			TCGA-CN-4741-01A-01D-1434-08	TCGA-CN-4741-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3486c689-d7ae-4ce8-8df5-ac8271b4661d	5c237a40-3697-4c30-99ae-9288b4f7a239	g.chr16:69745185_69745186insT	ENST00000320623.5	-	6	1031		c.e6-1		NQO1_ENST00000561500.1_Splice_Site|NQO1_ENST00000379047.3_Splice_Site|NQO1_ENST00000564043.1_Splice_Site|NQO1_ENST00000439109.2_Splice_Site|NQO1_ENST00000379046.2_Splice_Site	NM_000903.2	NP_000894.1	P15559	NQO1_HUMAN	NAD(P)H dehydrogenase, quinone 1						nitric oxide biosynthetic process|regulation of cellular amino acid metabolic process|response to toxin|synaptic transmission, cholinergic|xenobiotic metabolic process	cytosol	coenzyme binding|cytochrome-b5 reductase activity|electron carrier activity|NAD(P)H dehydrogenase (quinone) activity			autonomic_ganglia(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	10					Dicumarol(DB00266)|Menadione(DB00170)	GAATGCCACTCTGAGGATACAG	0.450													96	185	---	---	---	---